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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.