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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.