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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.

Lock M, McGorray S, Auricchio A, Ayuso E, Beecham EJ, Blouin-Tavel V, Bosch F, Bose M, Byrne BJ, Caton T, Chiorini JA, Chtarto A, Clark KR, Conlon T, Darmon C, Doria M, Douar A, Flotte TR, Francis JD, Francois A, Giacca M, Korn MT, Korytov I, Leon X, Leuchs B, Lux G, Melas C, Mizukami H, Moullier P, Muller M, Ozawa K, Philipsberg T, Poulard K, Raupp C, Riviere C, Roosendaal SD, Samulski RJ, Soltys SM, Surosky R, Tenenbaum L, Thomas DL, van Montfort B, Veres G, Wright JF, Xu Y, Zelenaia O, Zentilin L, Snyder RO (2010). Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material. Hum Gene Ther 21 (10):1273-1285.

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.