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Scientific Publications

2017

 

Abramowicz I, Carpenter G, Alfieri M, Colnaghi R, Outwin E, Parent P, Thauvin-Robinet C, Iaconis D, Franco B, O'Driscoll M (2017). Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Hum Mol Genet 26 (1):19-32.

Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F (2017). Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. Neurol Genet 3 (5):e179.

Agolini E, Dentici ML, Bellacchio E, Alesi V, Radio FC, Torella A, Musacchia F, Tartaglia M, Dallapiccola B, Nigro V, Digilio MC, Novelli A (2017). Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review. Clin Genet.

Ali RR, Auricchio A, Smith AJ (2017). The future looks brighter after 25 years of retinal gene therapy. Hum Gene Ther.

Bartolomeo R, Cinque L, De Leonibus C, Forrester A, Salzano AC, Monfregola J, De Gennaro E, Nusco E, Azario I, Lanzara C, Serafini M, Levine B, Ballabio A, Settembre C (2017). mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy. J Clin Invest.

Bellomo F, Medina DL, De Leo E, Panarella A, Emma F (2017). High-content drug screening for rare diseases. J Inherit Metab Dis 40 (4):601-607.

Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Perez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Megarbane A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Riviere JB, Faivre L, Thauvin-Robinet C (2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J Med Genet 54 (6):371-380.

Brunetti-Pierri N, Ng P (2017). Gene therapy with helper-dependent adenoviral vectors: lessons from studies in large animal models. Virus Genes.

Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N (2017). Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder. Eur J Med Genet.

Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH (2017). Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PLoS One 12 (9):e0184022.

Cappuccio G, Pinelli M, Torella A, Alagia M, Auricchio R, Staiano A, Nigro V, Tudp, Brunetti-Pierri N (2017). Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation. Am J Med Genet A.

D'Assante R, Fusco A, Palamaro L, Polishchuk E, Polishchuk R, Bianchino G, Grieco V, Prencipe MR, Ballabio A, Pignata C (2017). Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia. Clin Immunol 175 16-25.

De Matteis MA, Staiano L, Emma F, Devuyst O (2017). The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. Nat Rev Nephrol 13 (8):455-470.

Di Malta C, Siciliano D, Calcagni A, Monfregola J, Punzi S, Pastore N, Eastes AN, Davis O, De Cegli R, Zampelli A, Di Giovannantonio LG, Nusco E, Platt N, Guida A, Ogmundsdottir MH, Lanfrancone L, Perera RM, Zoncu R, Pelicci PG, Settembre C, Ballabio A (2017). Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth. Science 356 (6343):1188-1192.

Di Paola S, Scotto-Rosato A, Medina DL (2017). TRPML1: The Ca(2+)retaker of the lysosome. Cell Calcium.

Egorov MV, Polishchuk RS (2017). Emerging role of Cdc42-specific guanine nucleotide exchange factors as regulators of membrane trafficking in health and disease. Tissue Cell 49 (2 Pt A):157-162.

Ferla R, Alliegro M, Marteau JB, Dell'Anno M, Nusco E, Pouillot S, Galimberti S, Valsecchi MG, Zuliani V, Auricchio A (2017). Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI. Mol Ther Methods Clin Dev 6 143-158.

Flore G, Di Ruberto G, Parisot J, Sannino S, Russo F, Illingworth EA, Studer M, De Leonibus E (2017). Gradient COUP-TFI Expression Is Required for Functional Organization of the Hippocampal Septo-Temporal Longitudinal Axis. Cereb Cortex 27 (2):1629-1643.

Galluzzi L, Baehrecke EH, Ballabio A, Boya P, Bravo-San Pedro JM, Cecconi F, Choi AM, Chu CT, Codogno P, Colombo MI, Cuervo AM, Debnath J, Deretic V, Dikic I, Eskelinen EL, Fimia GM, Fulda S, Gewirtz DA, Green DR, Hansen M, Harper JW, Jaattela M, Johansen T, Juhasz G, Kimmelman AC, Kraft C, Ktistakis NT, Kumar S, Levine B, Lopez-Otin C, Madeo F, Martens S, Martinez J, Melendez A, Mizushima N, Munz C, Murphy LO, Penninger JM, Piacentini M, Reggiori F, Rubinsztein DC, Ryan KM, Santambrogio L, Scorrano L, Simon AK, Simon HU, Simonsen A, Tavernarakis N, Tooze SA, Yoshimori T, Yuan J, Yue Z, Zhong Q, Kroemer G (2017). Molecular definitions of autophagy and related processes. EMBO J 36 (13):1811-1836.

Gambardella G, Carissimo A, Chen A, Cutillo L, Nowakowski TJ, di Bernardo D, Blelloch R (2017). The impact of microRNAs on transcriptional heterogeneity and gene co-expression across single embryonic stem cells. Nat Commun 8 14126.

Iaconis D, Monti M, Renda M, van Koppen A, Tammaro R, Chiaravalli M, Cozzolino F, Pignata P, Crina C, Pucci P, Boletta A, Belcastro V, Giles RH, Maria Surace E, Gallo S, Pende M, Franco B (2017). The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets. Sci Rep 7 (1):1224.

Izzo A, Nitti M, Mollo N, Paladino S, Procaccini C, Faicchia D, Cali G, Genesio R, Bonfiglio F, Cicatiello R, Polishchuk E, Polishchuk R, Pinton P, Matarese G, Conti A, Nitsch L (2017). Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells. Hum Mol Genet 26 (6):1056-1069. 

Johnson SL, Ceriani F, Houston O, Polishchuk R, Polishchuk E, Crispino G, Zorzi V, Mammano F, Marcotti W (2017). Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea. J Neurosci 37 (2):258-268.

Kee AJ, Bryce NS, Yang L, Polishchuk E, Schevzov G, Weigert R, Polishchuk R, Gunning PW, Hardeman EC (2017). ER/Golgi trafficking is facilitated by unbranched actin filaments containing Tpm4.2. Cytoskeleton (Hoboken).

Liu C, Hutchens S, Jursa T, Shawlot W, Polishchuk EV, Polishchuk RS, Dray BK, Gore AC, Aschner M, Smith DR, Mukhopadhyay S (2017). Hypothyroidism induced by loss of the manganese efflux transporter SLC30A10 may be explained by reduced thyroxine production. J Biol Chem.

Maccari F, Sorrentino NC, Mantovani V, Galeotti F, Fraldi A, Volpi N (2017). Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier. Metab Brain Dis 32 (1):203-210.

Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'Angelo M G, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP (2017). The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. Muscle Nerve 55 (1):55-68.

Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, Saha PK, Zong H, Blaauw B, Solagna F, Tezze C, Grumati P, Bonaldo P, Pessin JE, Zeviani M, Sandri M, Ballabio A (2017). Transcription Factor EB Controls Metabolic Flexibility during Exercise. Cell Metab 25 (1):182-196.

Medina DL, Settembre C, Ballabio A (2017). Methods to Monitor and Manipulate TFEB Activity During Autophagy. Methods Enzymol 588 61-78.

Melis D, Carbone F, Minopoli G, La Rocca C, Perna F, De Rosa V, Galgani M, Andria G, Parenti G, Matarese G (2017). Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function. J Immunol 198 (10):3803-3808.

Papa R, Fiorillo C, Malattia C, Minoia F, Caorsi R, Assereto S, Iacomino M, Savarese M, Nigro V, Bruno C, Minetti C, Picco P (2017). Inflammatory myopathy in a patient with collagen VI mutations. Scand J Rheumatol 1-2.

Pastore N, Attanasio S, Granese B, Teckman J, Wilson AA, Ballabio A, Brunetti-Pierri AN (2017). Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin. Hepatology 65 (6):1865-1874.

Pastore N, Vainshtein A, Klisch TJ, Armani A, Huynh T, Herz NJ, Polishchuk EV, Sandri M, Ballabio A (2017). TFE3 regulates whole-body energy metabolism in cooperation with TFEB. EMBO Mol Med 9 (5):605-621.

Piccolo P, Annunziata P, Soria LR, Attanasio S, Barbato A, Castello R, Carissimo A, Quagliata L, Terracciano LM, Brunetti-Pierri N (2017). Down-regulation of hepatocyte nuclear factor-4alpha and defective zonation in livers expressing mutant Z alpha1-antitrypsin. Hepatology.

Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N (2017). MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy. Hum Mol Genet 26 (1):33-43.

Ronchini C, Brozzi A, Riva L, Luzi L, Gruszka AM, Melloni GE, Scanziani E, Dharmalingam G, Mutarelli M, Belcastro V, Lavorgna S, Rossi V, Spinelli O, Biondi A, Rambaldi A, Lo-Coco F, di Bernardo D, Pelicci PG (2017). PML-RARA-associated cooperating mutations belong to a transcriptional network that is deregulated in myeloid leukemias. Leukemia.

Sambri I, D'Alessio R, Ezhova Y, Giuliano T, Sorrentino NC, Cacace V, De Risi M, Cataldi M, Annunziato L, De Leonibus E, Fraldi A (2017). Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases. EMBO Mol Med 9 (1):112-132.

Sbano L, Bonora M, Marchi S, Baldassari F, Medina DL, Ballabio A, Giorgi C, Pinton P (2017). TFEB-mediated increase in peripheral lysosomes regulates store-operated calcium entry. Sci Rep 7 40797.

Sergin I, Evans TD, Zhang X, Bhattacharya S, Stokes CJ, Song E, Ali S, Dehestani B, Holloway KB, Micevych PS, Javaheri A, Crowley JR, Ballabio A, Schilling JD, Epelman S, Weihl CC, Diwan A, Fan D, Zayed MA, Razani B (2017). Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis. Nat Commun 8 15750.

Sha Y, Rao L, Settembre C, Ballabio A, Eissa NT (2017). STUB1 regulates TFEB-induced autophagy-lysosome pathway. EMBO J 36 (17):2544-2552.

Sirci F, Napolitano F, Pisonero-Vaquero S, Carrella D, Medina DL, di Bernardo D (2017). Comparing structural and transcriptional drug networks reveals signatures of drug activity and toxicity in transcriptional responses. NPJ Syst Biol Appl 3 23.

Taranta A, Bellomo F, Petrini S, Polishchuk E, De Leo E, Rega LR, Pastore A, Polishchuk R, De Matteis MA, Emma F (2017). Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells. Pediatr Res 81 (1-1):113-119.

Tardieu M, Zerah M, Gougeon ML, Ausseil J, de Bournonville S, Husson B, Zafeiriou D, Parenti G, Bourget P, Poirier B, Furlan V, Artaud C, Baugnon T, Roujeau T, Crystal RG, Meyer C, Deiva K, Heard JM (2017). Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial. Lancet Neurol 16 (9):712-720.

Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E (2017). A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. Eur J Paediatr Neurol.

Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S (2017). Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. Eur J Hum Genet 25 (5):651-655.

Truong EC, Phuan PW, Reggi AL, Ferrera L, Galietta LJV, Levy SE, Moises AC, Cil O, Diez-Cecilia E, Lee S, Verkman AS, Anderson MO (2017). Substituted 2-Acylaminocycloalkylthiophene-3-carboxylic Acid Arylamides as Inhibitors of the Calcium-Activated Chloride Channel Transmembrane Protein 16A (TMEM16A). J Med Chem 60 (11):4626-4635.

Vecchione C, Villa F, Carrizzo A, Spinelli CC, Damato A, Ambrosio M, Ferrario A, Madonna M, Uccellatore A, Lupini S, Maciag A, Ryskalin L, Milanesi L, Frati G, Sciarretta S, Bellazzi R, Genovese S, Ceriello A, Auricchio A, Malovini A, Puca AA (2017). A rare genetic variant of BPIFB4 predisposes to high blood pressure via impairment of nitric oxide signaling. Sci Rep 7 (1):9706.

Zappa F, Venditti R, De Matteis MA (2017). TRAPPing Rab18 in lipid droplets. EMBO J 36 (4):394-396.

2016

Acampora D, Omodei D, Petrosino G, Garofalo A, Savarese M, Nigro V, Di Giovannantonio LG, Mercadante V, Simeone A (2016). Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast. Cell Rep 15 (12):2651-2664.

Alliegro M, Ferla R, Nusco E, De Leonibus C, Settembre C, Auricchio A (2016). Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease. Mol Ther 24 (12):2054-2063.

Angelini C, Savarese M, Fanin M, Nigro V (2016). Next generation sequencing detection of late onset pompe disease. Muscle Nerve 53 (6):981-983.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR (2016). Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One 11 (4):e0153757.

Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, Giacanelli M, Massa R, Nigro V, Santorelli FM (2016). Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. BMC Med Genet 17 (1):25.

Ballabio A (2016). The awesome lysosome. EMBO Mol Med 8 (2):73-76.

Bellomo F, Taranta A, Petrini S, Venditti R, Rocchetti MT, Rega LR, Corallini S, Gesualdo L, De Matteis MA, Emma F (2016). Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting. PLoS One 11 (5):e0154805.

Bennett J, Wellman J, Marshall KA, McCague S, Ashtari M, DiStefano-Pappas J, Elci OU, Chung DC, Sun J, Wright JF, Cross DR, Aravand P, Cyckowski LL, Bennicelli JL, Mingozzi F, Auricchio A, Pierce EA, Ruggiero J, Leroy BP, Simonelli F, High KA, Maguire AM (2016). Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial. Lancet 388 (10045):661-672.

Beznoussenko GV, Ragnini-Wilson A, Wilson C, Mironov AA (2016). Three-dimensional and immune electron microscopic analysis of the secretory pathway in Saccharomyces cerevisiae. Histochem Cell Biol 146 (5):515-527.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R, Group UKRD (2016). An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun 7 11491.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefevre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Said S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavac D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Moller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C (2016). An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet 24 (12):1730-1738.

Botta S, Marrocco E, de Prisco N, Curion F, Renda M, Sofia M, Lupo M, Carissimo A, Bacci ML, Gesualdo C, Rossi S, Simonelli F, Surace EM (2016). Rhodopsin targeted transcriptional silencing by DNA-binding. Elife 5 e12242.

Bouche V, Espinosa AP, Leone L, Sardiello M, Ballabio A, Botas J (2016). Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy 12 (3):484-498.

Brunetti-Pierri N, Newsome PN (2016). AAV-mediated liver-directed gene therapy for Acute Intermittent Porphyria: It is safe but is it effective? J Hepatol 65 (4):666-667.

Calcagni A, Kors L, Verschuren E, De Cegli R, Zampelli N, Nusco E, Confalonieri S, Bertalot G, Pece S, Settembre C, Malouf GG, Leemans JC, de Heer E, Salvatore M, Peters DJ, Di Fiore PP, Ballabio A (2016). Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling. Elife 5.

Carrella D, Manni I, Tumaini B, Dattilo R, Papaccio F, Mutarelli M, Sirci F, Amoreo CA, Mottolese M, Iezzi M, Ciolli L, Aria V, Bosotti R, Isacchi A, Loreni F, Bardelli A, Avvedimento VE, di Bernardo D, Cardone L (2016). Computational drugs repositioning identifies inhibitors of oncogenic PI3K/AKT/P70S6K-dependent pathways among FDA-approved compounds. Oncotarget 7 (37):58743-58758.

Castello R, Borzone R, D'Aria S, Annunziata P, Piccolo P, Brunetti-Pierri N (2016). Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1. Gene Ther 23 (2):129-134.

Chesi G, Hegde RN, Iacobacci S, Concilli M, Parashuraman S, Festa BP, Polishchuk EV, Di Tullio G, Carissimo A, Montefusco S, Canetti D, Monti M, Amoresano A, Pucci P, van de Sluis B, Lutsenko S, Luini A, Polishchuk RS (2016). Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants. Hepatology 63 (6):1842-1859.

Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C (2016). OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Hum Mol Genet 25 (3):497-513.

Cinque L, Forrester A, Settembre C (2016). Autophagy gets to the bone. Cell Cycle 15 (7):871-872.

Concilli M, Iacobacci S, Chesi G, Carissimo A, Polishchuk R (2016). A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease. Metallomics 8 (9):920-930. 

De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA (2016). Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol 18 (8):839-850.

Dehay B, Decressac M, Bourdenx M, Guadagnino I, Fernagut PO, Tamburrino A, Bassil F, Meissner WG, Bezard E (2016). Targeting alpha-synuclein: Therapeutic options. Mov Disord 31 (6):882-888.

di Bernardo D (2016). Linking network topology to function: Comment on "Drivers of structural features in gene regulatory networks: From biophysical constraints to biological function" by O.C. Martin, A. Krzywicki and M. Zagorski. Phys Life Rev 17 159-160. 

Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V (2016). Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? Eur J Hum Genet 24 (1):73-77.

Fieten H, Gill Y, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TS, Martens EC, Festa P, Chesi G, van de Sluis B, Houwen RH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PA, Rothuizen J (2016). The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech 9 (1):25-38.

Fiore G, Perrino G, di Bernardo M, di Bernardo D (2016). In Vivo Real-Time Control of Gene Expression: A Comparative Analysis of Feedback Control Strategies in Yeast. ACS Synth Biol 5 (2):154-162.

Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C, Italian Network on Congenital M (2016). MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis 11 (1):91.

Fracassi C, Postiglione L, Fiore G, di Bernardo D (2016). Automatic Control of Gene Expression in Mammalian Cells. ACS Synth Biol 5 (4):296-302.

Fraldi A, Klein AD, Medina DL, Settembre C (2016). Brain Disorders Due to Lysosomal Dysfunction. Annu Rev Neurosci 39 277-295.

Franco B, Thauvin-Robinet C (2016). Update on oral-facial-digital syndromes (OFDS). Cilia 5 12. 

Garcia-Prat L, Martinez-Vicente M, Perdiguero E, Ortet L, Rodriguez-Ubreva J, Rebollo E, Ruiz-Bonilla V, Gutarra S, Ballestar E, Serrano AL, Sandri M, Munoz-Canoves P (2016). Autophagy maintains stemness by preventing senescence. Nature 529 (7584):37-42.

Ginocchio VM, Brunetti-Pierri N (2016). Progress toward improved therapies for inborn errors of metabolism. Hum Mol Genet 25 (R1):R27-35. 

Giugliano T, Fanin M, Savarese M, Piluso G, Angelini C, Nigro V (2016). Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results. Neuromuscul Disord 26 (6):367-369. 

Gorrieri G, Scudieri P, Caci E, Schiavon M, Tomati V, Sirci F, Napolitano F, Carrella D, Gianotti A, Musante I, Favia M, Casavola V, Guerra L, Rea F, Ravazzolo R, Di Bernardo D, Galietta LJ (2016). Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release. Sci Rep 6 36016. 

Grandone A, Del Vecchio Blanco F, Torella A, Caruso M, De Luca F, Di Mase R, Messina MF, Salerno MC, Sallemi A, Perone L, Marzuillo P, Miraglia Del Giudice E, Nigro V, Perrone L (2016). Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. Horm Res Paediatr 86 (5):330-336.

Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V (2016). Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. Clin Genet 90 (5):445-450.

Indrieri A, Grimaldi C, Zucchelli S, Tammaro R, Gustincich S, Franco B (2016). Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo. Sci Rep 6 27315. 

Karali M, Persico M, Mutarelli M, Carissimo A, Pizzo M, Singh Marwah V, Ambrosio C, Pinelli M, Carrella D, Ferrari S, Ponzin D, Nigro V, di Bernardo D, Banfi S (2016). High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs. Nucleic Acids Res 44 (4):1525-1540.

Klionsky DJ, Abdelmohsen K, Abe A, ..., Ballabio A, ...,Brumell JH, Brunetti-Pierri N, ... et al (2016). Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy 12 (1):1-222.

Martini-Stoica H, Xu Y, Ballabio A, Zheng H (2016). The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective. Trends Neurosci 39 (4):221-234.

Melillo P, Testa F, Rossi S, Di Iorio V, Orrico A, Auricchio A, Simonelli F (2016). En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease. Invest Ophthalmol Vis Sci 57 (9):OCT247-252.

Moey C, Hinze SJ, Brueton L, Morton J, McMullan DJ, Kamien B, Barnett CP, Brunetti-Pierri N, Nicholl J, Gecz J, Shoubridge C (2016). Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. Eur J Hum Genet 24 (3):373-380.

Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R (2016). Clinical, biochemical and molecular characterization of prosaposin deficiency. Clin Genet 90 (3):220-229.

Napolitano F, Sirci F, Carrella D, di Bernardo D (2016). Drug-set enrichment analysis: a novel tool to investigate drug mode of action. Bioinformatics 32 (2):235-241.

Napolitano G, Ballabio A (2016). TFEB at a glance. J Cell Sci 129 (13):2475-2481.

Nigro V, Savarese M (2016). Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol 29 (5):621-627.

Olivito L, Saccone P, Perri V, Bachman JL, Fragapane P, Mele A, Huganir RL, De Leonibus E (2016). Phosphorylation of the AMPA receptor GluA1 subunit regulates memory load capacity. Brain Struct Funct 221 (1):591-603.

Pagliarini R, Castello R, Napolitano F, Borzone R, Annunziata P, Mandrile G, De Marchi M, Brunetti-Pierri N, di Bernardo D (2016). In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis. Cell Rep 15 (10):2292-2300.

Pagliuso A, Valente C, Giordano LL, Filograna A, Li G, Circolo D, Turacchio G, Marzullo VM, Mandrich L, Zhukovsky MA, Formiggini F, Polishchuk RS, Corda D, Luini A (2016). Golgi membrane fission requires the CtBP1-S/BARS-induced activation of lysophosphatidic acid acyltransferase delta. Nat Commun 7 12148.

Pesce E, Gorrieri G, Sirci F, Napolitano F, Carrella D, Caci E, Tomati V, Zegarra-Moran O, di Bernardo D, Galietta LJ (2016). Evaluation of a systems biology approach to identify pharmacological correctors of the mutant CFTR chloride channel. J Cyst Fibros 15 (4):425-435.

Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP (2016). New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. J Mol Neurosci 59 (3):351-359.

Pinelli M, Carissimo A, Cutillo L, Lai CH, Mutarelli M, Moretti MN, Singh MV, Karali M, Carrella D, Pizzo M, Russo F, Ferrari S, Ponzin D, Angelini C, Banfi S, di Bernardo D (2016). An atlas of gene expression and gene co-regulation in the human retina. Nucleic Acids Res 44 (12):5773-5784.

Polishchuk EV, Polishchuk RS (2016). The emerging role of lysosomes in copper homeostasis. Metallomics 8 (9):853-862.

Reddy K, Cusack CL, Nnah IC, Khayati K, Saqcena C, Huynh TB, Noggle SA, Ballabio A, Dobrowolski R (2016). Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. Cell Rep 14 (9):2166-2179.

Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F (2016). Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney Int 89 (4):862-873.

Rocchi A, Milioto C, Parodi S, Armirotti A, Borgia D, Pellegrini M, Urciuolo A, Molon S, Morbidoni V, Marabita M, Romanello V, Gatto P, Blaauw B, Bonaldo P, Sambataro F, Robins DM, Lieberman AP, Soraru G, Vergani L, Sandri M, Pennuto M (2016). Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet. Acta Neuropathol 132 (1):127-144.

Rossi S, De Rosa G, D'Alterio FM, Orrico A, Banfi S, Testa F, Simonelli F (2016). Intrafamilial heterogeneity of congenital optic disc pit maculopathy. Ophthalmic Genet 1-6. 

Rossi S, Maisto R, Gesualdo C, Trotta MC, Ferraraccio F, Kaneva MK, Getting SJ, Surace E, Testa F, Simonelli F, Grieco P, Merlino F, Perretti M, D'Amico M, Di Filippo C (2016). Activation of Melanocortin Receptors MC 1 and MC 5 Attenuates Retinal Damage in Experimental Diabetic Retinopathy. Mediators Inflamm 2016 7368389. 

Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI (2016). Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet 48 (2):144-151.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evila A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V (2016). The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology 87 (1):71-76.

Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V (2016). Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. Neuromuscul Disord 26 (4-5):292-299.

Schiattarella GG, Cattaneo F, Pironti G, Magliulo F, Carotenuto G, Pirozzi M, Polishchuk R, Borzacchiello D, Paolillo R, Oliveti M, Boccella N, Avvedimento M, Sepe M, Lombardi A, Busiello RA, Trimarco B, Esposito G, Feliciello A, Perrino C (2016). Akap1 Deficiency Promotes Mitochondrial Aberrations and Exacerbates Cardiac Injury Following Permanent Coronary Ligation via Enhanced Mitophagy and Apoptosis. PLoS One 11 (5):e0154076.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E (2016). TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. Am J Hum Genet 99 (4):974-983.

Song JX, Sun YR, Peluso I, Zeng Y, Yu X, Lu JH, Xu Z, Wang MZ, Liu LF, Huang YY, Chen LL, Durairajan SS, Zhang HJ, Zhou B, Zhang HQ, Lu A, Ballabio A, Medina DL, Guo Z, Li M (2016). A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition. Autophagy 12 (8):1372-1389.

Sorrentino NC, Fraldi A (2016). Brain Targeting in MPS-IIIA. Pediatr Endocrinol Rev 13 Suppl 1 630-638.

Sorrentino NC, Maffia V, Strollo S, Cacace V, Romagnoli N, Manfredi A, Ventrella D, Dondi F, Barone F, Giunti M, Graham AR, Huang Y, Kalled SL, Auricchio A, Bacci ML, Surace EM, Fraldi A (2016). A Comprehensive Map of CNS Transduction by Eight Recombinant Adeno-associated Virus Serotypes Upon Cerebrospinal Fluid Administration in Pigs. Mol Ther 24 (2):276-286.

Tamburrino A, Decressac M (2016). Aged and Diseased Neurons Get Lost in Transport. Trends Neurosci 39 (4):199-201.

Tebbi A, Levillayer F, Jouvion G, Fiette L, Soubigou G, Varet H, Boudjadja N, Cairo S, Hashimoto K, Suzuki AM, Carninci P, Carissimo A, di Bernardo D, Wei Y (2016). Deficiency of multidrug resistance 2 contributes to cell transformation through oxidative stress. Carcinogenesis 37 (1):39-48.

Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A (2016). De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. Eur J Hum Genet 24 (9):1359-1362. 

Testa F, Melillo P, Bonnet C, Marcelli V, de Benedictis A, Colucci R, Gallo B, Kurtenbach A, Rossi S, Marciano E, Auricchio A, Petit C, Zrenner E, Simonelli F (2016). Clinical Presentation and Disease Course of Usher Syndrome Because of Mutations in Myo7a or Ush2a. Retina.

Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Riviere JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C (2016). Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet 90 (6):509-517.

Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, University of Washington Center for Mendelian G, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB (2016). The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 48 (6):648-656.

Venditti R, Masone MC, Wilson C, De Matteis MA (2016). PI(4)P homeostasis: Who controls the controllers? Adv Biol Regul 60 105-114.

2015

Publications 2015

Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C (2015). Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. Am J Hum Genet 97 (1):67-74.

Ambrosini V, Sorropago G, Laurenzano E, Golino L, Casafina A, Schiano V, Gabrielli G, Ettori F, Chizzola G, Bernardi G, Spedicato L, Armigliato P, Spampanato C, Furegato M (2015). Early outcome of high energy Laser (Excimer) facilitated coronary angioplasty ON hARD and complex calcified and balloOn-resistant coronary lesions: LEONARDO Study. Cardiovasc Revasc Med 16 (3):141-146.

Auricchio A, Trapani I, Allikmets R (2015). Gene Therapy of ABCA4-Associated Diseases. Cold Spring Harb Perspect Med 5 (5):a017301.

Ballabio A, Naldini L (2015). Fighting rare diseases: the model of the telethon research institutes in Italy. Hum Gene Ther 26 (4):183-185.

Beccari L, Marco-Ferreres R, Tabanera N, Manfredi A, Souren M, Wittbrodt B, Conte I, Wittbrodt J, Bovolenta P (2015). A trans-Regulatory Code for the Forebrain Expression of Six3.2 in the Medaka Fish. J Biol Chem 290 (45):26927-26942.

Biferi MG, Nicoletti C, Falcone G, Puggioni EM, Passaro N, Mazzola A, Pajalunga D, Zaccagnini G, Rizzuto E, Auricchio A, Zentilin L, De Luca G, Giacca M, Martelli F, Musio A, Musaro A, Crescenzi M (2015). Proliferation of Multiple Cell Types in the Skeletal Muscle Tissue Elicited by Acute p21 Suppression. Mol Ther 23 (5):885-895.

Caiazzo M, Giannelli S, Valente P, Lignani G, Carissimo A, Sessa A, Colasante G, Bartolomeo R, Massimino L, Ferroni S, Settembre C, Benfenati F, Broccoli V (2015). Direct conversion of fibroblasts into functional astrocytes by defined transcription factors. Stem Cell Reports 4 (1):25-36.

Calligaris R, Banica M, Roncaglia P, Robotti E, Finaurini S, Vlachouli C, Antonutti L, Iorio F, Carissimo A, Cattaruzza T, Ceiner A, Lazarevic D, Cucca A, Pangher N, Marengo E, di Bernardo D, Pizzolato G, Gustincich S (2015). Blood transcriptomics of drug-naive sporadic Parkinson's disease patients. BMC Genomics 16 (1):876.

Carrella S, Barbato S, D'Agostino Y, Salierno FG, Manfredi A, Banfi S, Conte I (2015). TGF-beta Controls miR-181/ERK Regulatory Network during Retinal Axon Specification and Growth. PLoS One 10 (12):e0144129.

Carrella S, D'Agostino Y, Barbato S, Huber-Reggi SP, Salierno FG, Manfredi A, Neuhauss SC, Banfi S, Conte I (2015). miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth. Dev Neurobiol 75 (11):1252-1267.

Cinque L, Forrester A, Bartolomeo R, Svelto M, Venditti R, Montefusco S, Polishchuk E, Nusco E, Rossi A, Medina DL, Polishchuk R, De Matteis MA, Settembre C (2015). FGF signalling regulates bone growth through autophagy. Nature 528 (7581):272-275.

Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC (2015). MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc Natl Acad Sci U S A 112 (25):E3236-3245.

Conte M, Vasuri F, Bertaggia E, Armani A, Santoro A, Bellavista E, Degiovanni A, D'Errico-Grigioni A, Trisolino G, Capri M, Franchi MV, Narici MV, Sandri M, Franceschi C, Salvioli S (2015). Differential expression of perilipin 2 and 5 in human skeletal muscle during aging and their association with atrophy-related genes. Biogerontology 16 (3):329-340.

Crocetta F, Marino R, Cirino P, Macina A, Staiano L, Esposito R, Pezzotti MR, Racioppi C, Toscano F, De Felice E, Locascio A, Ristoratore F, Spagnuolo A, Zanetti L, Branno M, Sordino P (2015). Mutation studies in ascidians: a review. Genesis 53 (1):160-169.

De Matteis MA, Rega LR (2015). Endoplasmic reticulum-Golgi complex membrane contact sites. Curr Opin Cell Biol 35 43-50.

Di Donato M, Bilancio A, D'Amato L, Claudiani P, Oliviero MA, Barone MV, Auricchio A, Appella E, Migliaccio A, Auricchio F, Castoria G (2015). Cross-talk between androgen receptor/filamin A and TrkA regulates neurite outgrowth in PC12 cells. Mol Biol Cell 26 (15):2858-2872.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A (2015). Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy 11 (6):928-938.

Esposito R, Montefusco S, Ferro P, Monti MC, Baldantoni D, Tosco A, Marzullo L (2015). Trefoil Factor 1 is involved in gastric cell copper homeostasis. Int J Biochem Cell Biol 59 30-40.

Fabrizio G, Di Paola S, Stilla A, Giannotta M, Ruggiero C, Menzel S, Koch-Nolte F, Sallese M, Di Girolamo M (2015). ARTC1-mediated ADP-ribosylation of GRP78/BiP: a new player in endoplasmic-reticulum stress responses. Cell Mol Life Sci 72 (6):1209-1225.

Fanin M, Nascimbeni AC, Savarese M, Papa V, Cenacchi G, Nigro V, Angelini C (2015). Familial polyglucosan body myopathy with unusual phenotype. Neuropathol Appl Neurobiol 41 (3):385-390.

Fanin M, Peterle E, Fritegotto C, Nascimbeni AC, Tasca E, Torella A, Nigro V, Angelini C (2015). Incomplete penetrance in limb-girdle muscular dystrophy type 1F. Muscle Nerve 52 (2):305-306. 

Fanin M, Savarese M, Nascimbeni AC, Di Fruscio G, Pastorello E, Tasca E, Trevisan CP, Nigro V, Angelini C (2015). Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle Nerve 51 (1):145-147.

Fanin M, Torella A, Savarese M, Nigro V, Angelini C (2015). GYG1 gene mutations in a family with polyglucosan body myopathy. Neurol Genet 1 (3):e21.

Ferla R, Claudiani P, Savarese M, Kozarsky K, Parini R, Scarpa M, Donati MA, Sorge G, Hopwood JJ, Parenti G, Fecarotta S, Nigro V, Sivri HS, Van Der Ploeg A, Andria G, Brunetti-Pierri N, Auricchio A (2015). Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. Hum Gene Ther 26 (3):145-152.

Fernandez S, Risolino M, Mandia N, Talotta F, Soini Y, Incoronato M, Condorelli G, Banfi S, Verde P (2015). miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer. Oncogene 34 (25):3240-3250.

Ferriero R, Iannuzzi C, Manco G, Brunetti-Pierri N (2015). Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate. J Inherit Metab Dis 38 (5):895-904.

Gambardella G, Peluso I, Montefusco S, Bansal M, Medina DL, Lawrence N, di Bernardo D (2015). A reverse-engineering approach to dissect post-translational modulators of transcription factor's activity from transcriptional data. BMC Bioinformatics 16 (1):279.

Giannotta M, Fragassi G, Tamburro A, Vanessa C, Luini A, Sallese M (2015). Prohibitin: A Novel Molecular Player in KDEL Receptor Signalling. Biomed Res Int 2015 319454.

Goginashvili A, Zhang Z, Erbs E, Spiegelhalter C, Kessler P, Mihlan M, Pasquier A, Krupina K, Schieber N, Cinque L, Morvan J, Sumara I, Schwab Y, Settembre C, Ricci R (2015). Insulin granules. Insulin secretory granules control autophagy in pancreatic beta cells. Science 347 (6224):878-882.

Hegde RN, Parashuraman S, Iorio F, Ciciriello F, Capuani F, Carissimo A, Carrella D, Belcastro V, Subramanian A, Bounti L, Persico M, Carlile G, Galietta L, Thomas DY, Di Bernardo D, Luini A (2015). Unravelling druggable signalling networks that control F508del-CFTR proteostasis. Elife 4.

Hidvegi T, Stolz DB, Alcorn JF, Yousem SA, Wang J, Leme AS, Houghton AM, Hale P, Ewing M, Cai H, Garchar EA, Pastore N, Annunziata P, Kaminski N, Pilewski J, Shapiro SD, Pak SC, Silverman GA, Brunetti-Pierri N, Perlmutter DH (2015). Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy. J Biol Chem 290 (50):29742-29757.

Ivanova EA, De Leo MG, Van Den Heuvel L, Pastore A, Dijkman H, De Matteis MA, Levtchenko EN (2015). Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. PLoS One 10 (3):e0120998.

Karali M, Banfi S (2015). Inherited Retinal Dystrophies: the role of gene expression regulators. Int J Biochem Cell Biol 61 115-119.

Lambertini C, Ventrella D, Barone F, Sorrentino NC, Dondi F, Fraldi A, Giunti M, Surace EM, Bacci ML, Romagnoli N (2015). Transdermal spinal catheter placement in piglets: Description and validation of the technique. J Neurosci Methods 255 17-21.

Lapierre LR, Kumsta C, Sandri M, Ballabio A, Hansen M (2015). Transcriptional and epigenetic regulation of autophagy in aging. Autophagy 11 (6):867-880.

Mammucari C, Gherardi G, Zamparo I, Raffaello A, Boncompagni S, Chemello F, Cagnin S, Braga A, Zanin S, Pallafacchina G, Zentilin L, Sandri M, De Stefani D, Protasi F, Lanfranchi G, Rizzuto R (2015). The mitochondrial calcium uniporter controls skeletal muscle trophism in vivo. Cell Rep 10 (8):1269-1279.

Marino M, Stoilova T, Giorgi C, Bachi A, Cattaneo A, Auricchio A, Pinton P, Zito E (2015). SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity. Hum Mol Genet 24 (7):1843-1855.

Medina DL, Ballabio A (2015). Lysosomal calcium regulates autophagy. Autophagy 11 (6):970-971.

Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, Rizzuto R, De Matteis MA, Ballabio A (2015). Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. Nat Cell Biol 17 (3):288-299.

Melis D, Minopoli G, Balivo F, Marcolongo P, Parini R, Paci S, Dionisi-Vici C, Casa RD, Benedetti A, Andria G, Parenti G (2015). Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib. JIMD Rep.

Milan G, Romanello V, Pescatore F, Armani A, Paik JH, Frasson L, Seydel A, Zhao J, Abraham R, Goldberg AL, Blaauw B, DePinho RA, Sandri M (2015). Regulation of autophagy and the ubiquitin-proteasome system by the FoxO transcriptional network during muscle atrophy. Nat Commun 6 6670.

Nigro V, Piluso G (2015). Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects. Biochim Biophys Acta 1852 (4):585-593.

Parenti G, Andria G, Ballabio A (2015). Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med 66 471-486.

Parenti G, Andria G, Valenzano KJ (2015). Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders. Mol Ther 23 (7):1138-1148.

Perillo L, Monsurro A, Bonci E, Torella A, Mutarelli M, Nigro V (2015). Genetic association of ARHGAP21 gene variant with mandibular prognathism. J Dent Res 94 (4):569-576.

Piccolo P, Brunetti-Pierri N (2015). Gene therapy for inherited diseases of liver metabolism. Hum Gene Ther 26 (4):186-192.

Rhrissorrakrai K, Belcastro V, Bilal E, Norel R, Poussin C, Mathis C, Dulize RH, Ivanov NV, Alexopoulos L, Rice JJ, Peitsch MC, Stolovitzky G, Meyer P, Hoeng J (2015). Understanding the limits of animal models as predictors of human biology: lessons learned from the sbv IMPROVER Species Translation Challenge. Bioinformatics 31 (4):471-483.

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB (2015). Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology 122 (1):170-179.

Santoro C, Maietta A, Giugliano T, Melis D, Perrotta S, Nigro V, Piluso G (2015). Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1. Eur J Hum Genet 23 (11):1460-1461.

Sartori R, Sandri M (2015). Bone and morphogenetic protein signalling and muscle mass. Curr Opin Clin Nutr Metab Care 18 (3):215-220.

Sartori R, Sandri M (2015). BMPs and the muscle-bone connection. Bone 80 37-42.

Sartorius R, D'Apice L, Trovato M, Cuccaro F, Costa V, De Leo MG, Marzullo VM, Biondo C, D'Auria S, De Matteis MA, Ciccodicola A, De Berardinis P (2015). Antigen delivery by filamentous bacteriophage fd displaying an anti-DEC-205 single-chain variable fragment confers adjuvanticity by triggering a TLR9-mediated immune response. EMBO Mol Med 7 (7):973-988.

Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V (2015). Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Neuromuscul Disord 25 (7):533-541.

Settembre C, Medina DL (2015). TFEB and the CLEAR network. Methods Cell Biol 126 45-62.

Sirakov M, Boussouar A, Kress E, Frau C, Lone IN, Nadjar J, Angelov D, Plateroti M (2015). The thyroid hormone nuclear receptor TRalpha1 controls the Notch signaling pathway and cell fate in murine intestine. Development 142 (16):2764-2774.

Staiano L, De Leo MG, Persico M, De Matteis MA (2015). Mendelian disorders of PI metabolizing enzymes. Biochim Biophys Acta 1851 (6):867-881.

Strating JR, van der Linden L, Albulescu L, Bigay J, Arita M, Delang L, Leyssen P, van der Schaar HM, Lanke KH, Thibaut HJ, Ulferts R, Drin G, Schlinck N, Wubbolts RW, Sever N, Head SA, Liu JO, Beachy PA, De Matteis MA, Shair MD, Olkkonen VM, Neyts J, van Kuppeveld FJ (2015). Itraconazole inhibits enterovirus replication by targeting the oxysterol-binding protein. Cell Rep 10 (4):600-615.

Tamburrino A, Churchill MJ, Wan OW, Colino-Sanguino Y, Ippolito R, Bergstrand S, Wolf DA, Herz NJ, Sconce MD, Bjorklund A, Meshul CK, Decressac M (2015). Cyclosporin promotes neurorestoration and cell replacement therapy in pre-clinical models of Parkinson's disease. Acta Neuropathol Commun 3 84.

Thompson DA, Ali RR, Banin E, Branham KE, Flannery JG, Gamm DM, Hauswirth WW, Heckenlively JR, Iannaccone A, Jayasundera KT, Khan NW, Molday RS, Pennesi ME, Reh TA, Weleber RG, Zacks DN, Monaciano C (2015). Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. Invest Ophthalmol Vis Sci 56 (2):918-931.

Trapani I, Banfi S, Simonelli F, Surace EM, Auricchio A (2015). Gene therapy of inherited retinal degenerations: prospects and challenges. Hum Gene Ther 26 (4):193-200.

Trapani I, Toriello E, de Simone S, Colella P, Iodice C, Polishchuk EV, Sommella A, Colecchi L, Rossi S, Simonelli F, Giunti M, Bacci ML, Polishchuk RS, Auricchio A (2015). Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease. Hum Mol Genet 24 (23):6811-6825.

Vainshtein A, Desjardins EM, Armani A, Sandri M, Hood DA (2015). PGC-1alpha modulates denervation-induced mitophagy in skeletal muscle. Skelet Muscle 5 9.

Ventre S, Indrieri A, Fracassi C, Franco B, Conte I, Cardone L, di Bernardo D (2015). Metabolic regulation of the ultradian oscillator Hes1 by reactive oxygen species. J Mol Biol 427 (10):1887-1902.

Villa F, Carrizzo A, Spinelli CC, Ferrario A, Malovini A, Maciag A, Damato A, Auricchio A, Spinetti G, Sangalli E, Dang Z, Madonna M, Ambrosio M, Sitia L, Bigini P, Cali G, Schreiber S, Perls T, Fucile S, Mulas F, Nebel A, Bellazzi R, Madeddu P, Vecchione C, Puca AA (2015). Genetic Analysis Reveals a Longevity-Associated Protein Modulating Endothelial Function and Angiogenesis. Circ Res 117 (4):333-345.

Xiao Q, Yan P, Ma X, Liu H, Perez R, Zhu A, Gonzales E, Tripoli DL, Czerniewski L, Ballabio A, Cirrito JR, Diwan A, Lee JM (2015). Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Abeta Generation and Amyloid Plaque Pathogenesis. J Neurosci 35 (35):12137-12151.

2014

Pubblications 2014_1

Amato R, Morleo M, Giaquinto L, di Bernardo D, Franco B (2014). A network-based approach to dissect the cilia/centrosome complex interactome. BMC Genomics 15 658.

Ayuso E, Blouin V, Lock M, McGorray S, Leon X, Alvira MR, Auricchio A, Bucher S, Chtarto A, Clark KR, Darmon C, Doria M, Fountain W, Gao G, Gao K, Giacca M, Kleinschmidt J, Leuchs B, Melas C, Mizukami H, Muller M, Noordman Y, Bockstael O, Ozawa K, Pythoud C, Sumaroka M, Surosky R, Tenenbaum L, van der Linden I, Weins B, Wright JF, Zhang X, Zentilin L, Bosch F, Snyder RO, Moullier P (2014). Manufacturing and characterization of a recombinant adeno-associated virus type 8 reference standard material. Hum Gene Ther 25 (11):977-987.

Belcastro V, di Bernardo D (2014). Reverse engineering transcriptional gene networks. Methods Mol Biol 1101 179-196.

Bello A, Chand A, Aviles J, Soule G, Auricchio A, Kobinger GP (2014). Novel adeno-associated viruses derived from pig tissues transduce most major organs in mice. Sci Rep 4 6644.

Beznoussenko GV, Parashuraman S, Rizzo R, Polishchuk R, Martella O, Di Giandomenico D, Fusella A, Spaar A, Sallese M, Capestrano MG, Pavelka M, Vos MR, Rikers YG, Helms V, Mironov AA, Luini A (2014). Transport of soluble proteins through the Golgi occurs by diffusion via continuities across cisternae. Elife 3 e02009.

Bonavita R, Walas D, Brown AK, Luini A, Stephens DJ, Colanzi A (2014). Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation. Biol Cell 106 (8):254-267.

Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C, Zeviani M (2014). AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure. Mol Ther 22 (1):10-17.

Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA (2014). Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med 2 (6):467-471.

Cancino J, Capalbo A, Di Campli A, Giannotta M, Rizzo R, Jung JE, Di Martino R, Persico M, Heinklein P, Sallese M, Luini A (2014). Control systems of membrane transport at the interface between the endoplasmic reticulum and the Golgi. Dev Cell 30 (3):280-294.

Capestrano M, Mariggio S, Perinetti G, Egorova AV, Iacobacci S, Santoro M, Di Pentima A, Iurisci C, Egorov MV, Di Tullio G, Buccione R, Luini A, Polishchuk RS (2014). Cytosolic phospholipase A(2)epsilon drives recycling through the clathrin-independent endocytic route. J Cell Sci 127 (Pt 5):977-993.

Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N (2014). Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A 164A (1):182-185.

Carrella D, Napolitano F, Rispoli R, Miglietta M, Carissimo A, Cutillo L, Sirci F, Gregoretti F, Di Bernardo D (2014). Mantra 2.0: an online collaborative resource for drug mode of action and repurposing by network analysis. Bioinformatics 30 (12):1787-1788.

Cioffi S, Martucciello S, Fulcoli FG, Bilio M, Ferrentino R, Nusco E, Illingworth E (2014). Tbx1 regulates brain vascularization. Hum Mol Genet 23 (1):78-89.

Colella P, Trapani I, Cesi G, Sommella A, Manfredi A, Puppo A, Iodice C, Rossi S, Simonelli F, Giunti M, Bacci ML, Auricchio A (2014). Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors. Gene Ther 21 (4):450-456.

Conte I, Merella S, Garcia-Manteiga JM, Migliore C, Lazarevic D, Carrella S, Marco-Ferreres R, Avellino R, Davidson NP, Emmett W, Sanges R, Bockett N, Van Heel D, Meroni G, Bovolenta P, Stupka E, Banfi S (2014). The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance. Nucleic Acids Res 42 (12):7793-7806.

Coppola A, Romito A, Borel C, Gehrig C, Gagnebin M, Falconnet E, Izzo A, Altucci L, Banfi S, Antonarakis SE, Minchiotti G, Cobellis G (2014). Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. Stem Cell Res 12 (2):323-337.

Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B, Oral-Facial-Digital Type ICG (2014). CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis 9 74.

Denegri M, Bongianino R, Lodola F, Boncompagni S, De Giusti VC, Avelino-Cruz JE, Liu N, Persampieri S, Curcio A, Esposito F, Pietrangelo L, Marty I, Villani L, Moyaho A, Baiardi P, Auricchio A, Protasi F, Napolitano C, Priori SG (2014). Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age. Circulation 129 (25):2673-2681.

Emanuel R, Sergin I, Bhattacharya S, Turner JN, Epelman S, Settembre C, Diwan A, Ballabio A, Razani B (2014). Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae. Arterioscler Thromb Vasc Biol 34 (9):1942-1952.

Fanin M, Nascimbeni A, Savarese M, Papa V, Cenacchi G, Nigro V, Angelini C (2014). Familial Polyglucosan Body Myopathy with Unusual Phenotype. Neuropathol Appl Neurobiol.

Fanin M, Peterle E, Fritegotto C, Nascimbeni AC, Tasca E, Torella A, Nigro V, Angelini C (2014). Incomplete Penetrance in LGMD1F. Muscle Nerve.

Ferla R, Claudiani P, Cotugno G, Saccone P, De Leonibus E, Auricchio A (2014). Similar therapeutic efficacy between a single administration of gene therapy and multiple administrations of recombinant enzyme in a mouse model of lysosomal storage disease. Hum Gene Ther 25 (7):609-618.

Fernandez S, Risolino M, Mandia N, Talotta F, Soini Y, Incoronato M, Condorelli G, Banfi S, Verde P (2014). miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer. Oncogene 0.

Ferraro MB, Savarese M, Di Fruscio G, Nigro V, Guarracino MR (2014). Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments. J Comput Biol 21 (9):665-675.

Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafe L, Baumgartner MR, Anikster Y, Braverman NE, Brunetti-Pierri N (2014). Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. Ann Clin Transl Neurol 1 (7):462-470.

Frankel LB, Di Malta C, Wen J, Eskelinen EL, Ballabio A, Lund AH (2014). A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder. Nat Commun 5 5840.

Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O (2014). Multiple sulfatase deficiency with neonatal manifestation. Ital J Pediatr 40 (1):86.

Ivanova E, De Leo MG, De Matteis MA, Levtchenko E (2014). Cystinosis: clinical presentation, pathogenesis and treatment. Pediatr Endocrinol Rev 12 Suppl 1 176-184.

Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N (2014). Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest 124 (5):2059-2070.

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noel C, Shboul M, Ho L, Guven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Riviere JB, Faivre L, Attie-Bitach T (2014). C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet 133 (3):367-377.

Luini A, Mavelli G, Jung J, Cancino J (2014). Control systems and coordination protocols of the secretory pathway. F1000Prime Rep 6 88.

Marino M, Stoilova T, Giorgi C, Bachi A, Cattaneo A, Auricchio A, Pinton P, Zito E (2014). SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity. Hum Mol Genet.

Menolascina F, Fiore G, Orabona E, De Stefano L, Ferry M, Hasty J, di Bernardo M, di Bernardo D (2014). In-vivo real-time control of protein expression from endogenous and synthetic gene networks. PLoS Comput Biol 10 (5):e1003625.

Moskot M, Montefusco S, Jakobkiewicz-Banecka J, Mozolewski P, Wegrzyn A, Di Bernardo D, Wegrzyn G, Medina DL, Ballabio A, Gabig-Ciminska M (2014). The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation. J Biol Chem 289 (24):17054-17069.

Mutarelli M, Marwah V, Rispoli R, Carrella D, Dharmalingam G, Oliva G, di Bernardo D (2014). A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders. BMC Genomics 15 Suppl 3 S5.

Nigro V, Piluso G (2014). Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects. Biochim Biophys Acta.

Nigro V, Savarese M (2014). Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 33 (1):1-12.

Parenti G, Fecarotta S, la Marca G, Rossi B, Ascione S, Donati MA, Morandi LO, Ravaglia S, Pichiecchio A, Ombrone D, Sacchini M, Pasanisi MB, De Filippi P, Danesino C, Della Casa R, Romano A, Mollica C, Rosa M, Agovino T, Nusco E, Porto C, Andria G (2014). A chaperone enhances blood alpha-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. Mol Ther 22 (11):2004-2012.

Parenti G, Moracci M, Fecarotta S, Andria G (2014). Pharmacological chaperone therapy for lysosomal storage diseases. Future Med Chem 6 (9):1031-1045.

Piccolo P, Annunziata P, Mithbaokar P, Brunetti-Pierri N (2014). SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction. Gene Ther 21 (11):950-957.

Piccolo P, Mithbaokar P, Sabatino V, Tolmie J, Melis D, Schiaffino MC, Filocamo M, Andria G, Brunetti-Pierri N (2014). SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. Eur J Hum Genet 22 (8):988-994.

Pisani A, Porto C, Andria G, Parenti G (2014). Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis 37 (1):145-146.

Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van ISC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, Parenti G, Brunetti-Pierri N, Settembre C, Ballabio A, Polishchuk RS (2014). Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. Dev Cell 29 (6):686-700.

Polito VA, Li H, Martini-Stoica H, Wang B, Yang L, Xu Y, Swartzlander DB, Palmieri M, di Ronza A, Lee VM, Sardiello M, Ballabio A, Zheng H (2014). Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB. EMBO Mol Med 6 (9):1142-1160.

Puppo A, Cesi G, Marrocco E, Piccolo P, Jacca S, Shayakhmetov DM, Parks RJ, Davidson BL, Colloca S, Brunetti-Pierri N, Ng P, Donofrio G, Auricchio A (2014). Retinal transduction profiles by high-capacity viral vectors. Gene Ther 21 (10):855-865.

Quintavalle C, Di Costanzo S, Zanca C, Tasset I, Fraldi A, Incoronato M, Mirabelli P, Monti M, Ballabio A, Pucci P, Cuervo AM, Condorelli G (2014). Phosphorylation-regulated degradation of the tumor-suppressor form of PED by chaperone-mediated autophagy in lung cancer cells. J Cell Physiol 229 (10):1359-1368.

Racioppi C, Kamal AK, Razy-Krajka F, Gambardella G, Zanetti L, di Bernardo D, Sanges R, Christiaen LA, Ristoratore F (2014). Fibroblast growth factor signalling controls nervous system patterning and pigment cell formation in Ciona intestinalis. Nat Commun 5 4830.

Rhrissorrakrai K, Belcastro V, Bilal E, Norel R, Poussin C, Mathis C, Dulize RH, Ivanov NV, Alexopoulos L, Rice JJ, Peitsch M, Stolovitzky G, Meyer P, Hoeng J (2014). Understanding the limits of animal models as predictors of human biology: lessons learned from the sbv IMPROVER Species Translation Challenge. Bioinformatics.

Rizzo R, Parashuraman S, Luini A (2014). Correlative video-light-electron microscopy: development, impact and perspectives. Histochem Cell Biol 142 (2):133-138.

Romagnoli N, Ventrella D, Giunti M, Dondi F, Sorrentino NC, Fraldi A, Surace EM, Bacci ML (2014). Access to cerebrospinal fluid in piglets via the cisterna magna: optimization and description of the technique. Lab Anim 48 (4):345-348.

Saccone P, Cotugno G, Russo F, Mastrogiacomo R, Tessitore A, Auricchio A, De Leonibus E (2014). Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI). Sci Rep 4 3644.

Savarese M, Di Fruscio G, Mutarelli M, Torella A, Magri F, Santorelli FM, Comi GP, Bruno C, Nigro V (2014). MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Acta Neuropathol Commun 2 100.

Schmitt F, Pastore N, Abarrategui-Pontes C, Flageul M, Myara A, Laplanche S, Labrune P, Podevin G, Nguyen TH, Brunetti-Pierri N (2014). Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors. Hum Gene Ther Methods 25 (3):181-186.

Settembre C, Ballabio A (2014). Lysosomal adaptation: how the lysosome responds to external cues. Cold Spring Harb Perspect Biol 6 (6).

Settembre C, Ballabio A (2014). Lysosome: regulator of lipid degradation pathways. Trends Cell Biol 24 (12):743-750.

Settembre C, Ballabio A (2014). Cell metabolism: autophagy transcribed. Nature 516 (7529):40-41.

Shapiro IM, Layfield R, Lotz M, Settembre C, Whitehouse C (2014). Boning up on autophagy: the role of autophagy in skeletal biology. Autophagy 10 (1):7-19.

Staiano L, De Leo MG, Persico M, De Matteis MA (2014). Mendelian disorders of PI metabolizing enzymes. Biochim Biophys Acta.

Tardieu M, Zerah M, Husson B, de Bournonville S, Deiva K, Adamsbaum C, Vincent F, Hocquemiller M, Broissand C, Furlan V, Ballabio A, Fraldi A, Crystal RG, Baugnon T, Roujeau T, Heard JM, Danos O (2014). Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther 25 (6):506-516.

Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, Gonzalez-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Riviere JB, Attie-Bitach T, Garcia-Verdugo JM, Faivre L, Megarbane A, Nachury MV (2014). The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet 46 (8):905-911.

Torres-Torronteras J, Viscomi C, Cabrera-Perez R, Camara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M, Marti R (2014). Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 22 (5):901-907.

Trapani I, Colella P, Sommella A, Iodice C, Cesi G, de Simone S, Marrocco E, Rossi S, Giunti M, Palfi A, Farrar GJ, Polishchuk R, Auricchio A (2014). Effective delivery of large genes to the retina by dual AAV vectors. EMBO Mol Med 6 (2):194-211.

Trapani I, Puppo A, Auricchio A (2014). Vector platforms for gene therapy of inherited retinopathies. Prog Retin Eye Res 43 108-128.

Venditti R, Wilson C, De Matteis MA (2014). Exiting the ER: what we know and what we don't. Trends Cell Biol 24 (1):9-18.

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavacana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M (2014). A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet 23 (15):4103-4110.

2013

Publications 2013

Amodio G, Venditti R, De Matteis MA, Moltedo O, Pignataro P, Remondelli P (2013). Endoplasmic reticulum stress reduces COPII vesicle formation and modifies Sec23a cycling at ERESs. FEBS Lett 587(19):3261-3266.

Avellino R, Carrella S, Pirozzi M, Risolino M, Salierno FG, Franco P, Stoppelli P, Verde P, Banfi S, Conte I (2013). miR-204 Targeting of Ankrd13A Controls Both Mesenchymal Neural Crest and Lens Cell Migration.PloS one 8 (4):e61099.

Bachetti T, Chiesa S, Castagnola P, Bani D, Di Zanni E, Omenetti A, D'Osualdo A, Fraldi A, Ballabio A, Ravazzolo R, Martini A, Gattorno M, Ceccherini I (2013). Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS). Ann Rheum Dis 72 (6):1044-1052.

Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS, Auricchio A (2013). Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis 36 (2):363-371.

Brunetti-Pierri N, Ferriero R (2013). Phenylbutyrate increases activity of pyruvate dehydrogenase complex (PDHC) through inhibition of PDK, a cancer metabolism target. Oncotarget.

Cancino J, Capalbo A, Luini A (2013). Golgi-dependent signaling: self-coordination of membrane trafficking.Methods Cell Biol 118 359-382.

Cancino J, Jung JE, Luini A (2013). Regulation of Golgi signaling and trafficking by the KDEL receptor.Histochem Cell Biol.

Cancino J, Luini A (2013). Signaling circuits on the Golgi complex. Traffic 14 (2):121-134.

Cappuccio G, Brunetti-Pierri N, Terrone G, Romano A, Andria G, Del Giudice E (2013). Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. J Inherit Metab Dis 9113-116.

Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N (2013). Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. American journal of medical genetics. Part A.

Cioffi S, Martucciello S, Fulcoli FG, Bilio M, Ferrentino R, Nusco E, Illingworth E (2013). Tbx1 regulates brain vascularization. Hum Mol Genet.

Colella P, Auricchio A (2013). Photoreceptor degeneration in mice: adeno-associated viral vector-mediated delivery of erythropoietin. Methods Mol Biol 982 237-263.

Colella P, Sommella A, Marrocco E, Di Vicino U, Polishchuk E, Garrido MG, Seeliger MW, Polishchuk R, Auricchio A (2013). Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy. PloS one 8 (8):e72027.

Conte I, Banfi S, Bovolenta P (2013). Non-coding RNAs in the development of sensory organs and related diseases. Cell Mol Life Sci 70 (21):4141-4155.

Coppola A, Romito A, Borel C, Gehrig C, Gagnebin M, Falconnet E, Izzo A, Altucci L, Banfi S, Antonarakis SE, Minchiotti G, Cobellis G (2013). Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. Stem cell research 12 (2):323-337.

Corda D, De Matteis MA (2013). Lipid signalling in health and disease. The FEBS journal 280 (24):6280.

D'Agostino M, Lemma V, Chesi G, Stornaiuolo M, Cannata-Serio M, D'Ambrosio C, Scaloni A, Polishchuk R, Bonatti S (2013). The cytosolic chaperone alpha-Crystallin B rescues appropriate folding and compartmentalization of misfolded multispan transmembrane proteins. J Cell Sci.

D'Angelo G, Uemura T, Chuang CC, Polishchuk E, Santoro M, Ohvo-Rekila H, Sato T, Di Tullio G, Varriale A, D'Auria S, Daniele T, Capuani F, Johannes L, Mattjus P, Monti M, Pucci P, Williams RL, Burke JE, Platt FM, Harada A, De Matteis MA (2013). Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi. Nature 501 (7465):116-120.

Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attie-Bitach T, Thauvin-Robinet C (2013). Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. Eur J Med Genet 56 (6):301-308.

De Cegli R, Iacobacci S, Flore G, Gambardella G, Mao L, Cutillo L, Lauria M, Klose J, Illingworth E, Banfi S, di Bernardo D (2013). Reverse engineering a mouse embryonic stem cell-specific transcriptional network reveals a new modulator of neuronal differentiation. Nucleic Acids Res 41 (2):711-726.

De Matteis MA, Vicinanza M, Venditti R, Wilson C (2013). Cellular assays for drug discovery in genetic disorders of intracellular trafficking. Annu Rev Genomics Hum Genet 14 159-190.

De Matteis MA, Wilson C, D'Angelo G (2013). Phosphatidylinositol-4-phosphate: The Golgi and beyond.Bioessays 35 (7):612-622.

De Palma S, Leone R, Grumati P, Vasso M, Polishchuk R, Capitanio D, Braghetta P, Bernardi P, Bonaldo P, Gelfi C (2013). Changes in Muscle Cell Metabolism and Mechanotransduction Are Associated with Myopathic Phenotype in a Mouse Model of Collagen VI Deficiency. PloS one 8 (2):e56716.

Di Stefano M, Rosa A, Belcastro V, di Bernardo D, Micheletti C (2013). Colocalization of coregulated genes: a steered molecular dynamics study of human chromosome 19. PLoS Comput Biol 9 (3):e1003019.

Doria M, Ferrara A, Auricchio A (2013). AAV2/8 Vectors Purified from Culture Medium with a Simple and Rapid Protocol Transduce Murine Liver, Muscle, and Retina Efficiently. Hum Gene Ther Methods.

Feeney EJ, Spampanato C, Puertollano R, Ballabio A, Parenti G, Raben N (2013). What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease. Autophagy 9 (7).

Ferla R, O'Malley T, Calcedo R, O'Donnell P, Wang P, Cotugno G, Claudiani P, Wilson JM, Haskins M, Auricchio A (2013). Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. Hum Gene Ther 24 (2):163-169.

Ferriero R, Brunetti-Pierri N (2013). Phenylbutyrate increases activity of pyruvate dehydrogenase complex.Oncotarget 4 (6):804-805.

Ferriero R, Brunetti-Pierri N (2013). Anti-cancer drug phenylbutyrate increases activity of pyruvate dehydrogenase complex. Oncotarget.

Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, Brunetti-Pierri N (2013). Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med 5 (175):175ra131.

Ferron M, Settembre C, Shimazu J, Lacombe J, Kato S, Rawlings DJ, Ballabio A, Karsenty G (2013). A RANKL-PKCbeta-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. Genes Dev 27 (8):955-969.

Fiore G, Menolascina F, di Bernardo M, di Bernardo D (2013). An experimental approach to identify dynamical models of transcriptional regulation in living cells. Chaos 23 (2):025106.

Gambardella G, Moretti MN, de Cegli R, Cardone L, Peron A, di Bernardo D (2013). Differential network analysis for the identification of condition-specific pathway activity and regulation. Bioinformatics 29(14):1776-1785.

Indrieri A, Conte I, Chesi G, Romano A, Quartararo J, Tate R, Ghezzi D, Zeviani M, Goffrini P, Ferrero I, Bovolenta P, Franco B (2013). The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. EMBO Mol Med 5 (2):280-293.

Iorio F, Saez-Rodriguez J, di Bernardo D (2013). Network based elucidation of drug response: from modulators to targets. BMC systems biology 7 139.

Khonsari RH, Seppala M, Pradel A, Dutel H, Clement G, Lebedev O, Ghafoor S, Rothova M, Tucker A, Maisey JG, Fan CM, Kawasaki M, Ohazama A, Tafforeau P, Franco B, Helms J, Haycraft CJ, David A, Janvier P, Cobourne MT, Sharpe PT (2013). The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling. BMC biology 11 (1):27.

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi JI, Le Merrer M, Martinovic J, Noel C, Shboul M, Ho L, Guven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Riviere JB, Faivre L, Attie-Bitach T (2013). C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet.

Mahfouz H, Ragnini-Wilson A, Venditti R, De Matteis MA, Wilson C (2013). Correction: Mutational Analysis of the Yeast TRAPP Subunit Trs20p Identifies Roles in Endocytic Recycling and Sporulation. PloS one 8(5).

Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Senechal A, Hebrard M, Bocquet B, Garcia CA, Hamel CP (2013). Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Gene_t 93(3):571-578.

Manfredi A, Marrocco E, Puppo A, Cesi G, Sommella A, Della Corte M, Rossi S, Giunti M, Craft CM, Bacci ML, Simonelli F, Surace EM, Auricchio A (2013). Combined Rod and Cone Transduction by Adeno-Associated Virus 2/8. Hum Gene Ther.

Pagliarini R, di Bernardo D (2013). A genome-scale modeling approach to study inborn errors of liver metabolism: toward an in silico patient. J Comput Biol 20 (5):383-397.

Pastore N, Ballabio A, Brunetti-Pierri N (2013). Autophagy master regulator TFEB induces clearance of toxic SERPINA1/alpha-1-antitrypsin polymers. Autophagy 9 (7).

Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N (2013). Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. EMBO Mol Med 5 (3):397-412.

Pastore N, Nusco E, Piccolo P, Castaldo S, Vanikova J, Vetrini F, Palmer D, Vitek L, Ng P, Brunetti-Pierri N (2013). Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats. Hum Gene Ther Methods.

Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA, Simonelli F, Banfi S (2013). The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis 8 (1):16.

Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM (2013). Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype. PloS one 8 (1):e51622.

Peterle E, Fanin M, Semplicini C, Padilla JJ, Nigro V, Angelini C (2013). Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol.

Piccolo P, Vetrini F, Mithbaokar P, Grove NC, Bertin T, Palmer D, Ng P, Brunetti-Pierri N (2013). SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors. Mol Ther 21(4):767-774.

Pisani A, Porto C, Andria G, Parenti G (2013). Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis.

Polishchuk EV, Polishchuk RS (2013). Analysis of Golgi complex function using correlative light-electron microscopy. Methods Cell Biol 118 243-258.

Polishchuk EV, Polishchuk RS, Luini A (2013). Correlative light-electron microscopy as a tool to study in vivo dynamics and ultrastructure of intracellular structures. Methods Mol Biol 931 413-422.

Polishchuk R, Lutsenko S (2013). Golgi in copper homeostasis: a view from the membrane trafficking field.Histochem Cell Biol 140 (3):285-295.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C (2013). Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Gene_t 93 (6):1143-1150.

Puppo A, Bello A, Manfredi A, Cesi G, Marrocco E, Della Corte M, Rossi S, Giunti M, Bacci ML, Simonelli F, Surace EM, Kobinger GP, Auricchio A (2013). Recombinant vectors based on porcine adeno-associated viral serotypes transduce the murine and pig retina. PloS one 8 (3):e59025.

Rizzo R, Parashuraman S, Mirabelli P, Puri C, Lucocq J, Luini A (2013). The dynamics of engineered resident proteins in the mammalian Golgi complex relies on cisternal maturation. J Cell Biol 201 (7):1027-1036.

Romero N, Dumur CI, Martinez H, Garcia IA, Monetta P, Slavin I, Sampieri L, Koritschoner N, Mironov AA, De Matteis MA, Alvarez C (2013). Rab1b overexpression modifies Golgi size and gene expression in HeLa cells and modulates the thyrotrophin response in thyroid cells in culture. Mol Biol Cell 24 (5):617-632.

Rotundo IL, Lancioni A, Savarese M, D'Orsi L, Iacomino M, Nigro G, Piluso G, Auricchio A, Nigro V (2013). Use of a lower dosage liver-Detargeted AAV vector to prevent hamster muscular dystrophy. Hum Gene Ther 24 (4):424-430.

Sanges R, Hadzhiev Y, Gueroult-Bellone M, Roure A, Ferg M, Meola N, Amore G, Basu S, Brown ER, De Simone M, Petrera F, Licastro D, Strahle U, Banfi S, Lemaire P, Birney E, Muller F, Stupka E (2013). Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development. Nucleic Acids Res 41 (6):3600-3618.

Savarese M, Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G, Piluso G, Perrone L, Del Giudice EM, Nigro V (2013). Familial trisomy 6p in mother and daughter. Am J Med Genet A 161(7):1675-1681.

Savarese M, Spinelli E, Gandolfo F, Lemma V, Di Fruscio G, Padoan R, Morescalchi F, D'Agostino M, Savoldi G, Semeraro F, Nigro V, Bonatti S (2013). Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant. Ophthalmic Genet.

Scorziello A, Savoia C, Sisalli MJ, Adornetto A, Secondo A, Boscia F, Esposito A, Polishchuk EV, Polishchuk RS, Molinaro P, Carlucci A, Lignitto L, Di Renzo G, Feliciello A, Annunziato L (2013). NCX3 regulates mitochondrial calcium handling through AKAP121-anchored signaling complex and prevents hypoxia-induced cell death. J Cell Sci.

Settembre C, Ballabio A (2013). New targets for old diseases: lessons from mucolipidosis type II. EMBO Mol Med 5 (12):1801-1803.

Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Jurgen Klisch T, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A (2013). TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol 15 (6):647-658.

Settembre C, Fraldi A, Medina DL, Ballabio A (2013). Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol 14 (5):283-296.

Shaham O, Gueta K, Mor E, Oren-Giladi P, Grinberg D, Xie Q, Cvekl A, Shomron N, Davis N, Keydar-Prizant M, Raviv S, Pasmanik-Chor M, Bell RE, Levy C, Avellino R, Banfi S, Conte I, Ashery-Padan R (2013). Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204. PLoS genetics 9(3):e1003357.

Shapiro IM, Layfield R, Lotz M, Settembre C, Whitehouse C (2013). Boning up on autophagy: The role of autophagy in skeletal biology. Autophagy 10 (1).

Siciliano V, Garzilli I, Fracassi C, Criscuolo S, Ventre S, di Bernardo D (2013). MiRNAs confer phenotypic robustness to gene networks by suppressing biological noise. Nature communications 4 2364.

Simon AK, Ballabio A (2013). T. rex attacks the lysosome. Nat Immunol 14 (1):10-12.

Sorrentino NC, D'Orsi L, Sambri I, Nusco E, Monaco C, Spampanato C, Polishchuk E, Saccone P, De Leonibus E, Ballabio A, Fraldi A (2013). A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. EMBO Mol Med 5(5):675-690.

Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N (2013). Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med 5 (5):691-706.

Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH (2013). Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int 24 (8):2253-2259.

Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q (2013). Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature 502 (7470):254-257.

Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Surace EM, Sun J, Acerra C, Wright JF, Wellman J, High KA, Auricchio A, Bennett J, Simonelli F (2013). Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2. Ophthalmology 120 (6):1283-1291.

Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attie-Bitach T (2013). OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clin Genet 84 (1):86-90.

Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V (2013). Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F. PloS one 8 (5):e63536.

Toriello HV, Erick M, Alessandri JL, Bailey D, Brunetti-Pierri N, Cox H, Fryer A, Marty D, McCurdy C, Mulliken JB, Murphy H, Omlor J, Pauli RM, Ranells JD, Sanchez-Valle A, Tobiasz A, Van Maldergem L, Lin AE (2013). Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A 161 (3):417-429.

Trapani I, Colella P, Sommella A, Iodice C, Cesi G, De Simone S, Marrocco E, Rossi S, Giunti M, Palfi A, Jane Farrar G, Polishchuk R, Auricchio A (2013). Effective delivery of large genes to the retina by dual AAV vectors. EMBO Mol Med.

Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT (2013). Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain 136 (Pt 10):3119-3139.

Venditti R, Wilson C, De Matteis MA (2013). Exiting the ER: what we know and what we don't. Trends Cell Biol.

Villella VR, Esposito S, Bruscia EM, Vicinanza M, Cenci S, Guido S, Pettoello-Mantovani M, Carnuccio R, De Matteis MA, Luini A, Maiuri MC, Raia V, Kroemer G, Maiuri L (2013). Disease-relevant proteostasis regulation of cystic fibrosis transmembrane conductance regulator. Cell Death Differ 20 (8):1101-1115.

2012

Publications 2012

Amoroso MR, Matassa DS, Laudiero G, Egorova AV, Polishchuk RS, Maddalena F, Piscazzi A, Paladino S, Sarnataro D, Garbi C, Landriscina M, Esposito F (2012). TRAP1 and the proteasome regulatory particle TBP7/Rpt3 interact in the endoplasmic reticulum and control cellular ubiquitination of specific mitochondrial proteins. Cell Death Differ 19 (4):592-604.

Arteaga-Solis E, Settembre C, Ballabio A, Karsenty G (2012). Sulfatases are determinants of alveolar formation. Matrix Biol 31 (4):253-260.

Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE (2012). WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A 158A (11):2917-2924.

Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E (2012). Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 20 (12):1234-1239.

Bennett J, Ashtari M, Wellman J, Marshall KA, Cyckowski LL, Chung DC, McCague S, Pierce EA, Chen Y, Bennicelli JL, Zhu X, Ying GS, Sun J, Wright JF, Auricchio A, Simonelli F, Shindler KS, Mingozzi F, High KA, Maguire AM (2012). AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness.Sci Transl Med 4 (120):120ra115.

Brunetti-Pierri N, Liou A, Patel P, Palmer D, Grove N, Finegold M, Piccolo P, Donnachie E, Rice K, Beaudet A, Mullins C, Ng P (2012). Balloon Catheter Delivery of Helper-dependent Adenoviral Vector Results in Sustained, Therapeutic hFIX Expression in Rhesus Macaques. Mol Ther 20 (10):1863-1870.

Cappuccio G, Brunetti-Pierri N (2012). Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome? Eur J Med Genet 55 (12):705-707.

Cerbone M, Wang J, Van der Maarel SM, D'Amico A, D'Agostino A, Romano A, Brunetti-Pierri N (2012). Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst. Am J Med Genet A 158A (8):2043-2046.

Colella P, Auricchio A (2012). Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients. Hum Gene Ther 23 (8):796-807.

Cotugno G, Annunziata P, Barone MV, Karali M, Banfi S, Auricchio A (2012). Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction. PloS one 7 (3):e33286.

D'Angelo A, De Angelis A, Avallone B, Piscopo I, Tammaro R, Studer M, Franco B (2012). Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development. PloS one 7(12):e52937.

D'Angelo G, Rega LR, De Matteis MA (2012). Connecting vesicular transport with lipid synthesis: FAPP2.Biochim Biophys Acta 1821 (8):1089-1095.

D'Angelo G, Vicinanza M, Wilson C, De Matteis MA (2012). Phosphoinositides in Golgi complex function.Subcell Biochem 59 255-270.

de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A (2012). Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. Hum Mol Genet 21 (8):1770-1781.

Denegri M, Avelino-Cruz JE, Boncompagni S, De Simone SA, Auricchio A, Villani L, Volpe P, Protasi F, Napolitano C, Priori SG (2012). Viral gene transfer rescues arrhythmogenic phenotype and ultrastructural abnormalities in adult calsequestrin-null mice with inherited arrhythmias. Circ Res 110 (5):663-668.

di Bernardo D, Marucci L, Menolascina F, Siciliano V (2012). Predicting synthetic gene networks. Methods Mol Biol 813 57-81.

Di Malta C, Fryer JD, Settembre C, Ballabio A (2012). Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proc Natl Acad Sci U S A 109 (35):E2334-2342.

Di Malta C, Fryer JD, Settembre C, Ballabio A (2012). Autophagy in astrocytes: a novel culprit in lysosomal storage disorders. Autophagy 8 (12):1871-1872.

Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M (2012). Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. EMBO Mol Med 4 (9):1008-1014.

Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM (2012). DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet 91 (3):444-454.

Duran JM, Campelo F, van Galen J, Sachsenheimer T, Sot J, Egorov MV, Rentero C, Enrich C, Polishchuk RS, Goni FM, Brugger B, Wieland F, Malhotra V (2012). Sphingomyelin organization is required for vesicle biogenesis at the Golgi complex. EMBO J 31 (24):4535-4546.

Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ (2012). BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome. Arch Ophthalmol 130 (11):1425-1432.

Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagni A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G (2012). The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome. PloS one 7 (7):e40440.

Gehart H, Goginashvili A, Beck R, Morvan J, Erbs E, Formentini I, De Matteis MA, Schwab Y, Wieland FT, Ricci R (2012). The BAR Domain Protein Arfaptin-1 Controls Secretory Granule Biogenesis at the trans-Golgi Network. Dev Cell 23 (4):756-768.

Gennarino VA, D'Angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M, Banfi S (2012). Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res 22 (6):1163-1172.

Giannotta M, Ruggiero C, Grossi M, Cancino J, Capitani M, Pulvirenti T, Consoli GM, Geraci C, Fanelli F, Luini A, Sallese M (2012). The KDEL receptor couples to Galphaq/11 to activate Src kinases and regulate transport through the Golgi. EMBO J 31 (13):2869-2881.

Hasan NM, Gupta A, Polishchuk E, Yu CH, Polishchuk R, Dmitriev OY, Lutsenko S (2012). Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-Golgi network. J Biol Chem287 (43):36041-36050.

Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B (2012). Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease. Am J Hum Gene_t 91(5):942-949.

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