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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.