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Scientific Publications

2015

Publications 2015

Auricchio A, Trapani I, Allikmets R (2015). Gene Therapy of ABCA4-Associated Diseases. Cold Spring Harb Perspect Med[Epub ahead of print]

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.

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.

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[Epub ahead of print]

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

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.

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. [Epub ahead of print]

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.

Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A et al (2012). Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8 (4):445-544.

Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V (2012). Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PloS one 7 (8):e43799.

Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A (2012). Autophagy in lysosomal storage disorders. Autophagy 8 (5):719-730.

Luciani A, Villella VR, Esposito S, Gavina M, Russo I, Silano M, Guido S, Pettoello-Mantovani M, Carnuccio R, Scholte B, De Matteis A, Maiuri MC, Raia V, Luini A, Kroemer G, Maiuri L (2012). Targeting autophagy as a novel strategy for facilitating the therapeutic action of potentiators on DeltaF508 cystic fibrosis transmembrane conductance regulator. Autophagy 8 (11).

Mahfouz H, Ragnini-Wilson A, Venditti R, De Matteis MA, Wilson C (2012). Mutational Analysis of the Yeast TRAPP Subunit Trs20p Identifies Roles in Endocytic Recycling and Sporulation. PloS one 7 (9):e41408.

Menolascina F, Siciliano V, di Bernardo D (2012). Engineering and control of biological systems: A new way to tackle complex diseases. FEBS Lett 586 (15):2122-2128.

Meola N, Pizzo M, Alfano G, Surace EM, Banfi S (2012). The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina. RNA 18 (1):111-123.

Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN (2012). Supravalvular aortic stenosis: elastin arteriopathy. Circ Cardiovasc Genet 5 (6):692-696.

Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A (2012). The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. BMC Med Genet 13 (1):20.

Nigro V, Piluso G (2012). Next generation sequencing (NGS) strategies for the genetic testing of myopathies. Acta Myol 31 (3):196-200.

Niola F, Zhao X, Singh D, Castano A, Sullivan R, Lauria M, Nam HS, Zhuang Y, Benezra R, Di Bernardo D, Iavarone A, Lasorella A (2012). Id proteins synchronize stemness and anchorage to the niche of neural stem cells. Nat Cell Biol 14 (5):477-487.

Pane LS, Zhang Z, Ferrentino R, Huynh T, Cutillo L, Baldini A (2012). Tbx1 is a negative modulator of Mef2c. Hum Mol Genet 21 (11):2485-2496.

Pastore N, Nusco E, Vanikova J, Sepe RM, Vetrini F, McDonagh A, Auricchio A, Vitek L, Brunetti-Pierri N (2012). Sustained Reduction of Hyperbilirubinemia in Gunn Rats After Adeno-Associated Virus-Mediated Gene Transfer of Bilirubin UDP-Glucuronosyltransferase Isozyme 1A1 to Skeletal Muscle. Hum Gene Ther23 (10):1082-1089.

Pisani A, Visciano B, Roux GD, Sabbatini M, Porto C, Parenti G, Imbriaco M (2012). Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature. Mol Genet Metab 107(3):267-275.

Polishchuk RS, Polishchuk EV, Luini A (2012). Visualizing live dynamics and ultrastructure of intracellular organelles with preembedding correlative light-electron microscopy. Methods Cell Biol 111 21-35.

Porto C, Ferrara MC, Meli M, Acampora E, Avolio V, Rosa M, Cobucci-Ponzano B, Colombo G, Moracci M, Andria G, Parenti G (2012). Pharmacological Enhancement of alpha-Glucosidase by the Allosteric Chaperone N-acetylcysteine. Mol Ther 20 (12):2201-2211.

Porto C, Pisani A, Rosa M, Acampora E, Avolio V, Tuzzi MR, Visciano B, Gagliardo C, Materazzi S, la Marca G, Andria G, Parenti G (2012). Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis 35 (3):513-520.

Rossi S, Testa F, Gargiulo A, Di Iorio V, Pierri RB, D'Alterio FM, Corte MD, Surace E, Simonelli F (2012). The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.Case Report Ophthalmol 3 (1):113-117.

Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V (2012). Enhancer chip: detecting human copy number variations in regulatory elements. PloS one 7 (12):e52264.

Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A (2012). A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J 31 (5):1095-1108.

Strisciuglio C, Corleto VD, Brunetti-Pierri N, Piccolo P, Sangermano R, Rindi G, Martini M, D'Armiento FP, Staiano A, Miele E (2012). Autosomal Dominant Menetrier-like Disease. J Pediatr Gastroenterol Nutr 55(6):717-720.

Tate R, Cermola M, Riccio A, Diez-Roux G, Patriarca EJ (2012). Glutathione is required by Rhizobium etli for glutamine utilization and symbiotic effectiveness. Mol Plant Microbe Interact 25 (3):331-340.

Testa F, Rossi S, Sodi A, Passerini I, Di Iorio V, Corte MD, Banfi S, Surace EM, Menchini U, Auricchio A, Simonelli F (2012). Correlation between Photoreceptor Layer Integrity and Visual Function in Patients with Stargardt Disease: Implications for Gene Therapy. Invest Ophthalmol Vis Sci 53 (8):4409-4415.

Valente C, Turacchio G, Mariggio S, Pagliuso A, Gaibisso R, Di Tullio G, Santoro M, Formiggini F, Spano S, Piccini D, Polishchuk RS, Colanzi A, Luini A, Corda D (2012). A 14-3-3gamma dimer-based scaffold bridges CtBP1-S/BARS to PI(4)KIIIbeta to regulate post-Golgi carrier formation. Nat Cell Biol 14 (4):343-354.

Vandenberghe LH, Auricchio A (2012). Novel adeno-associated viral vectors for retinal gene therapy. Gene Ther 19 (2):162-168.

Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A, Jr., Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA (2012). Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science 337 (6102):1668-1672.

Wakana Y, van Galen J, Meissner F, Scarpa M, Polishchuk RS, Mann M, Malhotra V (2012). A new class of carriers that transport selective cargo from the trans Golgi network to the cell surface. EMBO J 31(20):3976-3990.

Zhang D, Ciciriello F, Anjos SM, Carissimo A, Liao J, Carlile GW, Balghi H, Robert R, Luini A, Hanrahan JW, Thomas DY (2012). Ouabain Mimics Low Temperature Rescue of F508del-CFTR in Cystic Fibrosis Epithelial Cells. Front Pharmacol 3 176.

2011

Publications 2011

Alfano G, Conte I, Caramico T, Avellino R, Arno B, Pizzo MT, Tanimoto N, Beck SC, Huber G, Dolle P, Seeliger MW, Banfi S (2011). Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye. Development 138 (2):261-271.

Allocca M, Manfredi A, Iodice C, Di Vicino U, Auricchio A (2011). AAV-mediated gene replacement, either alone or in combination with physical and pharmacological agents, results in partial and transient protection from photoreceptor degeneration associated with betaPDE deficiency. Invest Ophthalmol Vis Sci 52(8):5713-5719.

Angelini C, Grisold W, Nigro V (2011). Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. Acta Myol 30 (3):185-187.

Ashtari M, Cyckowski LL, Monroe JF, Marshall KA, Chung DC, Auricchio A, Simonelli F, Leroy BP, Maguire AM, Shindler KS, Bennett J (2011). The human visual cortex responds to gene therapy-mediated recovery of retinal function. J Clin Invest 121 (6):2160-2168.

Auricchio A (2011). Fighting blindness with adeno-associated virus serotype 8. Hum Gene Ther 22(10):1169-1170.

Bai M, Gad H, Turacchio G, Cocucci E, Yang JS, Li J, Beznoussenko GV, Nie Z, Luo R, Fu L, Collawn JF, Kirchhausen T, Luini A, Hsu VW (2011). ARFGAP1 promotes AP-2-dependent endocytosis. Nat Cell Biol13 (5):559-567.

Belcastro V, Gregoretti F, Siciliano V, Santoro M, D'Angelo G, Oliva G, di Bernardo D (2011). Reverse-Engineering and Analysis of Genome-Wide Gene Regulatory Networks from Gene Expression Profiles Using High-Performance Computing. IEEE/ACM Trans Comput Biol Bioinform.

Belcastro V, Siciliano V, Gregoretti F, Mithbaokar P, Dharmalingam G, Berlingieri S, Iorio F, Oliva G, Polishchuck R, Brunetti-Pierri N, di Bernardo D (2011). Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function. Nucleic Acids Res 39 (20):8677-8688.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tuysuz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Vici CD, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R (2011). IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles. Hum Mutat 32 (6):E2189-2210.

Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B (2011). Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol 349 (2):179-191.

Bojarski P, Kulak L, Walczewska-Szewc K, Synak A, Marzullo VM, Luini A, D'Auria S (2011). Long-Distance FRET Analysis: A Monte Carlo Simulation Study. J Phys Chem B 115 (33):10120-10125.

Bousquet J, Anto JM, Sterk PJ, Adcock IM, Chung KF, Roca J, Agusti A, Brightling C, Cambon-Thomsen A, Cesario A, Abdelhak S, Antonarakis SE, Avignon A, Ballabio A, Baraldi E, Baranov A, Bieber T, Bockaert J, Brahmachari S, Brambilla C, Bringer J, Dauzat M, Ernberg I, Fabbri L, Froguel P, Galas D, Gojobori T, Hunter P, Jorgensen C, Kauffmann F, Kourilsky P, Kowalski ML, Lancet D, Pen CL, Mallet J, Mayosi B, Mercier J, Metspalu A, Nadeau JH, Ninot G, Noble D, Ozturk M, Palkonen S, Prefaut C, Rabe K, Renard E, Roberts RG, Samolinski B, Schunemann HJ, Simon HU, Soares MB, Superti-Furga G, Tegner J, Verjovski-Almeida S, Wellstead P, Wolkenhauer O, Wouters E, Balling R, Brookes AJ, Charron D, Pison C, Chen Z, Hood L, Auffray C (2011). Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med 3 (7):43.

Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B (2011). Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet 20 (4):631-640.

Brunetti-Pierri N, Ng P (2011). Helper-dependent adenoviral vectors for liver-directed gene therapy. Hum Mol Genet 20 (R1):R7-13.

Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P (2011). Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet 19 (1):102-107.

Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L (2011). Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol 20(2):77-81.

Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V (2011). Reverse engineering gene network identifies new dysferlin-interacting proteins. J Biol Chem 286 (7):5404-5413.

Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V (2011). Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet 19 (9):974-980.

Cervigni RI, Barretta ML, Persico A, Corda D, Colanzi A (2011). The role of Aurora-A kinase in the Golgi-dependent control of mitotic entry. Bioarchitecture 1 (2):61-65.

Colella P, Iodice C, Di Vicino U, Annunziata I, Surace EM, Auricchio A (2011). Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration. Hum Mol Genet 20 (11):2251-2262.

Cotugno G, Annunziata P, Tessitore A, O'Malley T, Capalbo A, Faella A, Bartolomeo R, O'Donnell P, Wang P, Russo F, Sleeper MM, Knox VW, Fernandez S, Levanduski L, Hopwood J, De Leonibus E, Haskins M, Auricchio A (2011). Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. Mol Ther 19 (3):461-469.

Cotugno G, Aurilio M, Annunziata P, Capalbo A, Faella A, Rinaldi V, Strisciuglio C, Di Tommaso M, Aloj L, Auricchio A (2011). Noninvasive repetitive imaging of somatostatin receptor 2 gene transfer with positron emission tomography. Hum Gene Ther 22 (2):189-196.

Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N (2011). Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. Mol Genet Metab 104 (4):706-707.

Cuccato G, Polynikis A, Siciliano V, Graziano M, di Bernardo M, di Bernardo D (2011). Modeling RNA interference in mammalian cells. BMC Syst Biol 5 19.

D'Angelo A, Franco B (2011). The primary cilium in different tissues-lessons from patients and animal models. Pediatr Nephrol 26 (5):655-662.

d'Aquino R, Tirino V, Desiderio V, Studer M, De Angelis GC, Laino L, De Rosa A, Di Nucci D, Martino S, Paino F, Sampaolesi M, Papaccio G (2011). Human neural crest-derived postnatal cells exhibit remarkable embryonic attributes either in vitro or in vivo. Eur Cell Mater 21 304-316.

De Matteis MA, Luini A (2011). Mendelian disorders of membrane trafficking. N Engl J Med 365 (10):927-938.

Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nurnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dolle P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A (2011). A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol 9 (1):e1000582.

Dimmock D, Brunetti-Pierri N, Palmer DJ, Beaudet AL, Ng P (2011). Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors. Hum Gene Ther 22(4):483-488.

Dindot S, Piccolo P, Grove N, Palmer D, Brunetti-Pierri N (2011). Intrathecal injection of helper-dependent adenoviral vectors results in long-term transgene expression in neuroependymal cells and neurons. Hum Gene Ther 22 (6):745-751.

Eichele G, Diez-Roux G (2011). High-throughput analysis of gene expression on tissue sections by in situ hybridization. Methods 53 (4):417-423.

Fecarotta S, Amitrano M, Romano A, Della Casa R, Bruschini D, Astarita L, Parenti G, Andria G (2011). The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am J Med Genet 155A (3):540-547.

Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM (2011). Molecular and clinical characterization of albinism in a large cohort of Italian patients. Invest Ophthalmol Vis Sci 52 (3):1281-1289.

Gennarino VA, Sardiello M, Mutarelli M, Dharmalingam G, Maselli V, Lago G, Banfi S (2011). HOCTAR database: a unique resource for microRNA target prediction. Gene 480 (1-2):51-58.

Glick BS, Luini A (2011). Models for Golgi traffic: a critical assessment. Cold Spring Harbor Perspectives in Biology 3 (11):a005215.

Kahn RA, Luini A, Segev N (2011). The Cellular Logistics Blog (CellLogBlog): A place for reviews and reasoned debate. Cellular logistics 1 (1):3.

Karali M, Manfredi A, Puppo A, Marrocco E, Gargiulo A, Allocca M, Corte MD, Rossi S, Giunti M, Bacci ML, Simonelli F, Surace EM, Banfi S, Auricchio A (2011). MicroRNA-restricted transgene expression in the retina. PLoS One 6 (7):e22166.

Lancioni A, Rotundo IL, Kobayashi YM, D'Orsi L, Aurino S, Nigro G, Piluso G, Acampora D, Cacciottolo M, Campbell KP, Nigro V (2011). Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Hum Mol Genet 20 (23):4644-4654.

Lodato S, Tomassy GS, De Leonibus E, Uzcategui YG, Andolfi G, Armentano M, Touzot A, Gaztelu JM, Arlotta P, Menendez de la Prida L, Studer M (2011). Loss of COUP-TFI alters the balance between caudal ganglionic eminence- and medial ganglionic eminence-derived cortical interneurons and results in resistance to epilepsy. J Neurosci 31 (12):4650-4662.

Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina DL, Settembre C, Gavina M, Raia V, Ballabio A, Maiuri L (2011). Cystic fibrosis: a disorder with defective autophagy. Autophagy 7 (1):104-106.

Luini A (2011). A brief history of the cisternal progression-maturation model. Cellular logistics 1 (1):6-11.

Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Palmieri M, Polishchuk R, Puertollano R, Ballabio A (2011). Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Developmental cell 21 (3):421-430.

Mussolino C, della Corte M, Rossi S, Viola F, Di Vicino U, Marrocco E, Neglia S, Doria M, Testa F, Giovannoni R, Crasta M, Giunti M, Villani E, Lavitrano M, Bacci ML, Ratiglia R, Simonelli F, Auricchio A, Surace EM (2011). AAV-mediated photoreceptor transduction of the pig cone-enriched retina. Gene Ther18 (7):637-645.

Mussolino C, Sanges D, Marrocco E, Bonetti C, Di Vicino U, Marigo V, Auricchio A, Meroni G, Surace EM (2011). Zinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa. EMBO Mol Med 3 (3):118-128.

Napolitano LM, Jaffray EG, Hay RT, Meroni G (2011). Functional interactions between ubiquitin E2 enzymes and TRIM proteins. Biochem J 434 (2):309-319.

Nigro V, Aurino S, Piluso G (2011). Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol 24 (5):429-436.

Palmieri G, Bergamo P, Luini A, Ruvo M, Gogliettino M, Langella E, Saviano M, Hegde RN, Sandomenico A, Rossi M (2011). Acylpeptide hydrolase inhibition as targeted strategy to induce proteasomal down-regulation. PLoS One 6 (10):e25888

Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A (2011). Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum Mol Genet 20 (19):3852-3866.

Piluso G, Dionisi M, Del Vecchio Blanco F, Torella A, Aurino S, Savarese M, Giugliano T, Bertini E, Terracciano A, Vainzof M, Criscuolo C, Politano L, Casali C, Santorelli FM, Nigro V (2011). Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.Clin Chem 57 (11):1584-1596.

Polynikis A, Cuccato G, Criscuolo S, Hogan SJ, Di Bernardo M, Di Bernardo D (2011). Design and construction of a versatile synthetic network for bistable gene expression in mammalian systems. J Comput Biol 18 (2):195-203.

Roncarati R, Latronico MV, Musumeci B, Aurino S, Torella A, Bang ML, Jotti GS, Puca AA, Volpe M, Nigro V, Autore C, Condorelli G (2011). Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. J Cell Physiol 226(11):2894-2900.

Rotundo IL, Faraso S, De Leonibus E, Nigro G, Vitiello C, Lancioni A, Di Napoli D, Castaldo S, Russo V, Russo F, Piluso G, Auricchio A, Nigro V (2011). Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy. PLoS One 6 (9):e24729.

Settembre C, Ballabio A (2011). TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy 7 (11):1379-1381.

Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A (2011). TFEB links autophagy to lysosomal biogenesis.Science 332 (6036):1429-1433.

Siciliano V, Menolascina F, Marucci L, Fracassi C, Garzilli I, Moretti MN, di Bernardo D (2011). Construction and modelling of an inducible positive feedback loop stably integrated in a mammalian cell-line. PLoS Comput Biol 7 (6):e1002074.

Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A (2011). Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Mol Ther 19 (5):860-869.

Tammaro A, Di Martino A, Bracco A, Cozzolino S, Savoia G, Andria B, Cannavo A, Spagnuolo M, Piluso G, Aurino S, Nigro V (2011). Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet 79 (5):438-447.

Testa F, Surace EM, Rossi S, Marrocco E, Gargiulo A, Di Iorio V, Ziviello C, Nesti A, Fecarotta S, Bacci ML, Giunti M, Della Corte M, Banfi S, Auricchio A, Simonelli F (2011). Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.Invest Ophthalmol Vis Sci 52 (8):5618-5624.

Thauvin-Robinet C, Lesca G, Aral B, Gigot N, Lambert S, Gueneau L, Macca M, Franco B, Huet F, Zabot MT, Attie-Bitach T, Attia-Sobol J, Faivre L (2011). Cerebral dysgenesis does not exclude OFD I syndrome.Am J Med Genet A 155 (2):455-457.

Vicinanza M, Di Campli A, Polishchuk E, Santoro M, Di Tullio G, Godi A, Levtchenko E, De Leo MG, Polishchuk R, Sandoval L, Marzolo MP, De Matteis MA (2011). OCRL controls trafficking through early endosomes via PtdIns4,5P-dependent regulation of endosomal actin. EMBO J 30 (24):4970-4985.

Vozzi D, Aaspollu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Kulm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P (2011). Molecular epidemiology of Usher syndrome in Italy. Mol Vis 17 1662-1668.

Yang JS, Valente C, Polishchuk RS, Turacchio G, Layre E, Moody DB, Leslie CC, Gelb MH, Brown WJ, Corda D, Luini A, Hsu VW (2011). COPI acts in both vesicular and tubular transport. Nat Cell Biol 13(8):996-1003.

2010

Publications 2010

Ballabio A (2010). Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. Int J Clin Pharmacol Ther 47 Suppl 1 S34-38.

Bandah-Rozenfeld D, Collin RW, Banin E, Ingeborgh van den Born L, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI (2010). Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Gene_ 87 (2):199-208.

Bonetti C, Surace EM (2010). Mouse embryonic retina delivers information controlling cortical neurogenesis. PLoS One 5 (12):e15211.

Bonnal RJ, Severgnini M, Castaldi A, Bordoni R, Iacono M, Trimarco A, Torella A, Piluso G, Aurino S, Condorelli G, De Bellis G, Nigro V (2010). Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing. Anal Biochem 406 (2):176-184.

Buono M, Cosma MP (2010). Sulfatase activities towards the regulation of cell metabolism and signaling in mammals. Cell Mol Life Sci 67 (5):769-780.

Buono M, Visigalli I, Bergamasco R, Biffi A, Cosma MP (2010). Sulfatase modifying factor 1-mediated fibroblast growth factor signaling primes hematopoietic multilineage development. J Exp Med 207 (8):1647-1660.

Cacchiarelli D, Martone J, Girardi E, Cesana M, Incitti T, Morlando M, Nicoletti C, Santini T, Sthandier O, Barberi L, Auricchio A, Musaro A, Bozzoni I (2010). MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. Cell Metab 12 (4):341-351.

Chen L, Mupo A, Huynh T, Cioffi S, Woods M, Jin C, McKeehan W, Thompson-Snipes L, Baldini A, Illingworth E (2010). Tbx1 regulates Vegfr3 and is required for lymphatic vessel development. J Cell Biol189 (3):417-424.

Colella P, Auricchio A (2010). AAV-mediated gene supply for treatment of degenerative and neovascular retinal diseases. Curr Gene Ther 10 (5):371-380.

Conte I, Carrella S, Avellino R, Karali M, Marco-Ferreres R, Bovolenta P, Banfi S (2010). miR-204 is required for lens and retinal development via Meis2 targeting. Proc Natl Acad Sci U S A 107 (35):15491-15496.

Cotugno G, Tessitore A, Capalbo A, Annunziata P, Strisciuglio C, Faella A, Aurilio M, Di Tommaso M, Russo F, Mancini A, De Leonibus E, Aloj L, Auricchio A (2010). Different serum enzyme levels are required to rescue the various systemic features of the mucopolysaccharidoses. Hum Gene Ther 21 (5):555-569.

De Cegli R, Romito A, Iacobacci S, Mao L, Lauria M, Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, di Bernardo D, Banfi S, Ballabio A, Cobellis G (2010). A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biol 11 (6):R64.

Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C, Fedele AO, Polishchuk R, Sorrentino NC, Simons K, Ballabio A (2010). Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J 29 (21):3607-3620.

Fuentealba P, Klausberger T, Karayannis T, Suen WY, Huck J, Tomioka R, Rockland K, Capogna M, Studer M, Morales M, Somogyi P (2010). Expression of COUP-TFII Nuclear Receptor in Restricted GABAergic Neuronal Populations in the Adult Rat Hippocampus. J Neurosci 30 (5):1595-1609.

Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM (2010). Molecular and clinical characterization of albinism in a large cohort of Italian patients. Invest Ophthalmol Vis Sci.

Gregoretti F, Belcastro V, di Bernardo D, Oliva G (2010). A parallel implementation of the network identification by multiple regression (NIR) algorithm to reverse-engineer regulatory gene networks. PLoS One 5 (4):e10179.

Grillo G, Turi A, Licciulli F, Mignone F, Liuni S, Banfi S, Gennarino VA, Horner DS, Pavesi G, Picardi E, Pesole G (2010). UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res 38 (Database issue):D75-80.

Iorio F, Bosotti R, Scacheri E, Belcastro V, Mithbaokar P, Ferriero R, Murino L, Tagliaferri R, Brunetti-Pierri N, Isacchi A, di Bernardo D (2010). Discovery of drug mode of action and drug repositioning from transcriptional responses. Proc Natl Acad Sci U S A 107 (33):14621-14626.

Iorio F, Isacchi A, di Bernardo D, Brunetti-Pierri N (2010). Identification of small molecules enhancing autophagic function from drug network analysis. Autophagy 6 (8):1204-1205.

Karali M, Peluso I, Gennarino VA, Bilio M, Verde R, Lago G, Dolle P, Banfi S (2010). miRNeye: a microRNA expression atlas of the mouse eye. BMC Genomics 11 715.

Lancioni A, Pizzo M, Fontanella B, Ferrentino R, Napolitano LM, De Leonibus E, Meroni G (2010). Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. J Neurosci 30 (8):2880-2887.

Licastro D, Gennarino VA, Petrera F, Sanges R, Banfi S, Stupka E (2010). Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements. BMC Genomics 11 151.

Lluis F, Cosma MP (2010). Cell-fusion-mediated somatic-cell reprogramming: a mechanism for tissue regeneration. J Cell Physiol 223 (1):6-13.

Lluis F, Pedone E, Pepe S, Cosma MP (2010). The Wnt/beta-Catenin Signaling Pathway Tips the Balance Between Apoptosis and Reprogramming of Cell-Fusion Hybrids. Stem Cells.

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Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina D, Settembre C, Gavina M, Pulze L, Giardino I, Pettoello-Mantovani M, D'Apolito M, Guido S, Masliah E, Spencer B, Quaratino S, Raia V, Ballabio A, Maiuri L (2010). Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nature cell biology 12 (9):863-875.

Marucci L, Santini S, di Bernardo M, di Bernardo D (2010). Derivation, identification and validation of a computational model of a novel synthetic regulatory network in yeast. Journal of Mathematical Biology.

Merla G, Brunetti-Pierri N, Micale L, Fusco C (2010). Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet 128 (1):3-26.

Nakano A, Luini A (2010). Passage through the Golgi. Curr Opin Cell Biol 22 (4):471-478.

Parenti G (2010). Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med 1 (5):268-279.

Persico A, Cervigni RI, Barretta ML, Corda D, Colanzi A (2010). Golgi partitioning controls mitotic entry through Aurora-A kinase. Mol Biol Cell 21 (21):3708-3721.

Piluso G, Aurino S, Cacciottolo M, Del Vecchio Blanco F, Lancioni A, Rotundo IL, Torella A, Nigro V (2010). Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 29 (1):1-20.

Polito VA, Abbondante S, Polishchuk RS, Nusco E, Salvia R, Cosma MP (2010). Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy. Hum Mol Genet 19 (24):4871-4885.

Ponder KP, Auricchio A (2010). Gene therapy for ocular problems in mucopolysaccharidosis: an experimental and promising approach with benefits in animal models – a review. Clin Exp Ophthal 38(s1):43-51.

Romito A, Lonardo E, Roma G, Minchiotti G, Ballabio A, Cobellis G (2010). Lack of Sik1 in Mouse Embryonic Stem Cells Impairs Cardiomyogenesis by Down-Regulating the Cyclin-Dependent Kinase Inhibitor p57. PLoS One 5 (2):e9029

Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C (2010). Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet 77 (3):258-265.

Santoro L, Nolano M, Faraso S, Fiorillo C, Vitiello C, Provitera V, Aurino S, Nigro V (2010). Perioral skin biopsy to study skeletal muscle protein expression. Muscle and Nerve 41 (3):392-398.

Schnermann MJ, Beaudry CM, Egorova AV, Polishchuk RS, Sutterlin C, Overman LE (2010). Golgi-modifying properties of macfarlandin E and the synthesis and evaluation of its 2,7-dioxabicyclo[3.2.1]octan-3-one core. Proc Natl Acad Sci U S A 107 (14):6158-6163.

Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, Rossi S, Marshall K, Banfi S, Surace EM, Sun J, Redmond TM, Zhu X, Shindler KS, Ying GS, Ziviello C, Acerra C, Wright JF, McDonnell JW, High KA, Bennett J, Auricchio A (2010). Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration. Mol Ther 18 (3):643-650.

Srinivasan RS, Geng X, Yang Y, Wang Y, Mukatira S, Studer M, Porto MP, Lagutin O, Oliver G (2010). The nuclear hormone receptor Coup-TFII is required for the initiation and early maintenance of Prox1 expression in lymphatic endothelial cells. Genes Dev 24 (7):696-707.

Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH (2010). Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Gene_ 87 (1):146-153.

Tomassy GS, De Leonibus E, Jabaudon D, Lodato S, Alfano C, Mele A, Macklis JD, Studer M (2010). Area-specific temporal control of corticospinal motor neuron differentiation by COUP-TFI. Proc Natl Acad Sci U S A 107 (8):3576-3581.

Torella A, Trimarco A, Blanco Fdel V, Cuomo A, Aurino S, Piluso G, Minetti C, Politano L, Nigro V (2010). One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. J Mol Diagn 12 (1):65-73.

Valente C, Polishchuk R, De Matteis MA (2010). Rab6 and myosin II at the cutting edge of membrane fission. Nat Cell Biol 12 (7):635-638.

Wilson C, Venditti R, Rega LR, Colanzi A, D'Angelo G, De Matteis MA (2010). The Golgi apparatus: an organelle with multiple complex functions. Biochem J 433 (1):1-9.

Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dolle P, Igarashi P, Franco B (2010). Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Hum Mol Genet 19 (14):2792-2803.