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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.