You are here: Home / Research / Scientific Publications / 2015

2015

Publications 2015

Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C (2015). Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. Am J Hum Genet 97 (1):67-74.

Ambrosini V, Sorropago G, Laurenzano E, Golino L, Casafina A, Schiano V, Gabrielli G, Ettori F, Chizzola G, Bernardi G, Spedicato L, Armigliato P, Spampanato C, Furegato M (2015). Early outcome of high energy Laser (Excimer) facilitated coronary angioplasty ON hARD and complex calcified and balloOn-resistant coronary lesions: LEONARDO Study. Cardiovasc Revasc Med 16 (3):141-146.

Auricchio A, Trapani I, Allikmets R (2015). Gene Therapy of ABCA4-Associated Diseases. Cold Spring Harb Perspect Med 5 (5):a017301.

Ballabio A, Naldini L (2015). Fighting rare diseases: the model of the telethon research institutes in Italy. Hum Gene Ther 26 (4):183-185.

Beccari L, Marco-Ferreres R, Tabanera N, Manfredi A, Souren M, Wittbrodt B, Conte I, Wittbrodt J, Bovolenta P (2015). A trans-Regulatory Code for the Forebrain Expression of Six3.2 in the Medaka Fish. J Biol Chem 290 (45):26927-26942.

Biferi MG, Nicoletti C, Falcone G, Puggioni EM, Passaro N, Mazzola A, Pajalunga D, Zaccagnini G, Rizzuto E, Auricchio A, Zentilin L, De Luca G, Giacca M, Martelli F, Musio A, Musaro A, Crescenzi M (2015). Proliferation of Multiple Cell Types in the Skeletal Muscle Tissue Elicited by Acute p21 Suppression. Mol Ther 23 (5):885-895.

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.

Calligaris R, Banica M, Roncaglia P, Robotti E, Finaurini S, Vlachouli C, Antonutti L, Iorio F, Carissimo A, Cattaruzza T, Ceiner A, Lazarevic D, Cucca A, Pangher N, Marengo E, di Bernardo D, Pizzolato G, Gustincich S (2015). Blood transcriptomics of drug-naive sporadic Parkinson's disease patients. BMC Genomics 16 (1):876.

Carrella S, Barbato S, D'Agostino Y, Salierno FG, Manfredi A, Banfi S, Conte I (2015). TGF-beta Controls miR-181/ERK Regulatory Network during Retinal Axon Specification and Growth. PLoS One 10 (12):e0144129.

Carrella S, D'Agostino Y, Barbato S, Huber-Reggi SP, Salierno FG, Manfredi A, Neuhauss SC, Banfi S, Conte I (2015). miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth. Dev Neurobiol 75 (11):1252-1267.

Cinque L, Forrester A, Bartolomeo R, Svelto M, Venditti R, Montefusco S, Polishchuk E, Nusco E, Rossi A, Medina DL, Polishchuk R, De Matteis MA, Settembre C (2015). FGF signalling regulates bone growth through autophagy. Nature 528 (7581):272-275.

Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC (2015). MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc Natl Acad Sci U S A 112 (25):E3236-3245.

Conte M, Vasuri F, Bertaggia E, Armani A, Santoro A, Bellavista E, Degiovanni A, D'Errico-Grigioni A, Trisolino G, Capri M, Franchi MV, Narici MV, Sandri M, Franceschi C, Salvioli S (2015). Differential expression of perilipin 2 and 5 in human skeletal muscle during aging and their association with atrophy-related genes. Biogerontology 16 (3):329-340.

Crocetta F, Marino R, Cirino P, Macina A, Staiano L, Esposito R, Pezzotti MR, Racioppi C, Toscano F, De Felice E, Locascio A, Ristoratore F, Spagnuolo A, Zanetti L, Branno M, Sordino P (2015). Mutation studies in ascidians: a review. Genesis 53 (1):160-169.

De Matteis MA, Rega LR (2015). Endoplasmic reticulum-Golgi complex membrane contact sites. Curr Opin Cell Biol 35 43-50.

Di Donato M, Bilancio A, D'Amato L, Claudiani P, Oliviero MA, Barone MV, Auricchio A, Appella E, Migliaccio A, Auricchio F, Castoria G (2015). Cross-talk between androgen receptor/filamin A and TrkA regulates neurite outgrowth in PC12 cells. Mol Biol Cell 26 (15):2858-2872.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A (2015). Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy 11 (6):928-938.

Esposito R, Montefusco S, Ferro P, Monti MC, Baldantoni D, Tosco A, Marzullo L (2015). Trefoil Factor 1 is involved in gastric cell copper homeostasis. Int J Biochem Cell Biol 59 30-40.

Fabrizio G, Di Paola S, Stilla A, Giannotta M, Ruggiero C, Menzel S, Koch-Nolte F, Sallese M, Di Girolamo M (2015). ARTC1-mediated ADP-ribosylation of GRP78/BiP: a new player in endoplasmic-reticulum stress responses. Cell Mol Life Sci 72 (6):1209-1225.

Fanin M, Nascimbeni AC, Savarese M, Papa V, Cenacchi G, Nigro V, Angelini C (2015). Familial polyglucosan body myopathy with unusual phenotype. Neuropathol Appl Neurobiol 41 (3):385-390.

Fanin M, Peterle E, Fritegotto C, Nascimbeni AC, Tasca E, Torella A, Nigro V, Angelini C (2015). Incomplete penetrance in limb-girdle muscular dystrophy type 1F. Muscle Nerve 52 (2):305-306. 

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.

Fanin M, Torella A, Savarese M, Nigro V, Angelini C (2015). GYG1 gene mutations in a family with polyglucosan body myopathy. Neurol Genet 1 (3):e21.

Ferla R, Claudiani P, Savarese M, Kozarsky K, Parini R, Scarpa M, Donati MA, Sorge G, Hopwood JJ, Parenti G, Fecarotta S, Nigro V, Sivri HS, Van Der Ploeg A, Andria G, Brunetti-Pierri N, Auricchio A (2015). Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. Hum Gene Ther 26 (3):145-152.

Fernandez S, Risolino M, Mandia N, Talotta F, Soini Y, Incoronato M, Condorelli G, Banfi S, Verde P (2015). miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer. Oncogene 34 (25):3240-3250.

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 38 (5):895-904.

Gambardella G, Peluso I, Montefusco S, Bansal M, Medina DL, Lawrence N, di Bernardo D (2015). A reverse-engineering approach to dissect post-translational modulators of transcription factor's activity from transcriptional data. BMC Bioinformatics 16 (1):279.

Giannotta M, Fragassi G, Tamburro A, Vanessa C, Luini A, Sallese M (2015). Prohibitin: A Novel Molecular Player in KDEL Receptor Signalling. Biomed Res Int 2015 319454.

Goginashvili A, Zhang Z, Erbs E, Spiegelhalter C, Kessler P, Mihlan M, Pasquier A, Krupina K, Schieber N, Cinque L, Morvan J, Sumara I, Schwab Y, Settembre C, Ricci R (2015). Insulin granules. Insulin secretory granules control autophagy in pancreatic beta cells. Science 347 (6224):878-882.

Hegde RN, Parashuraman S, Iorio F, Ciciriello F, Capuani F, Carissimo A, Carrella D, Belcastro V, Subramanian A, Bounti L, Persico M, Carlile G, Galietta L, Thomas DY, Di Bernardo D, Luini A (2015). Unravelling druggable signalling networks that control F508del-CFTR proteostasis. Elife 4.

Hidvegi T, Stolz DB, Alcorn JF, Yousem SA, Wang J, Leme AS, Houghton AM, Hale P, Ewing M, Cai H, Garchar EA, Pastore N, Annunziata P, Kaminski N, Pilewski J, Shapiro SD, Pak SC, Silverman GA, Brunetti-Pierri N, Perlmutter DH (2015). Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy. J Biol Chem 290 (50):29742-29757.

Ivanova EA, De Leo MG, Van Den Heuvel L, Pastore A, Dijkman H, De Matteis MA, Levtchenko EN (2015). Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. PLoS One 10 (3):e0120998.

Karali M, Banfi S (2015). Inherited Retinal Dystrophies: the role of gene expression regulators. Int J Biochem Cell Biol 61 115-119.

Lambertini C, Ventrella D, Barone F, Sorrentino NC, Dondi F, Fraldi A, Giunti M, Surace EM, Bacci ML, Romagnoli N (2015). Transdermal spinal catheter placement in piglets: Description and validation of the technique. J Neurosci Methods 255 17-21.

Lapierre LR, Kumsta C, Sandri M, Ballabio A, Hansen M (2015). Transcriptional and epigenetic regulation of autophagy in aging. Autophagy 11 (6):867-880.

Mammucari C, Gherardi G, Zamparo I, Raffaello A, Boncompagni S, Chemello F, Cagnin S, Braga A, Zanin S, Pallafacchina G, Zentilin L, Sandri M, De Stefani D, Protasi F, Lanfranchi G, Rizzuto R (2015). The mitochondrial calcium uniporter controls skeletal muscle trophism in vivo. Cell Rep 10 (8):1269-1279.

Marino M, Stoilova T, Giorgi C, Bachi A, Cattaneo A, Auricchio A, Pinton P, Zito E (2015). SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity. Hum Mol Genet 24 (7):1843-1855.

Medina DL, Ballabio A (2015). Lysosomal calcium regulates autophagy. Autophagy 11 (6):970-971.

Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, Rizzuto R, De Matteis MA, Ballabio A (2015). Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. Nat Cell Biol 17 (3):288-299.

Melis D, Minopoli G, Balivo F, Marcolongo P, Parini R, Paci S, Dionisi-Vici C, Casa RD, Benedetti A, Andria G, Parenti G (2015). Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib. JIMD Rep.

Milan G, Romanello V, Pescatore F, Armani A, Paik JH, Frasson L, Seydel A, Zhao J, Abraham R, Goldberg AL, Blaauw B, DePinho RA, Sandri M (2015). Regulation of autophagy and the ubiquitin-proteasome system by the FoxO transcriptional network during muscle atrophy. Nat Commun 6 6670.

Nigro V, Piluso G (2015). Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects. Biochim Biophys Acta 1852 (4):585-593.

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

Parenti G, Andria G, Valenzano KJ (2015). Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders. Mol Ther 23 (7):1138-1148.

Perillo L, Monsurro A, Bonci E, Torella A, Mutarelli M, Nigro V (2015). Genetic association of ARHGAP21 gene variant with mandibular prognathism. J Dent Res 94 (4):569-576.

Piccolo P, Brunetti-Pierri N (2015). Gene therapy for inherited diseases of liver metabolism. Hum Gene Ther 26 (4):186-192.

Rhrissorrakrai K, Belcastro V, Bilal E, Norel R, Poussin C, Mathis C, Dulize RH, Ivanov NV, Alexopoulos L, Rice JJ, Peitsch MC, Stolovitzky G, Meyer P, Hoeng J (2015). Understanding the limits of animal models as predictors of human biology: lessons learned from the sbv IMPROVER Species Translation Challenge. Bioinformatics 31 (4):471-483.

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.

Santoro C, Maietta A, Giugliano T, Melis D, Perrotta S, Nigro V, Piluso G (2015). Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1. Eur J Hum Genet 23 (11):1460-1461.

Sartori R, Sandri M (2015). Bone and morphogenetic protein signalling and muscle mass. Curr Opin Clin Nutr Metab Care 18 (3):215-220.

Sartori R, Sandri M (2015). BMPs and the muscle-bone connection. Bone 80 37-42.

Sartorius R, D'Apice L, Trovato M, Cuccaro F, Costa V, De Leo MG, Marzullo VM, Biondo C, D'Auria S, De Matteis MA, Ciccodicola A, De Berardinis P (2015). Antigen delivery by filamentous bacteriophage fd displaying an anti-DEC-205 single-chain variable fragment confers adjuvanticity by triggering a TLR9-mediated immune response. EMBO Mol Med 7 (7):973-988.

Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V (2015). Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Neuromuscul Disord 25 (7):533-541.

Settembre C, Medina DL (2015). TFEB and the CLEAR network. Methods Cell Biol 126 45-62.

Sirakov M, Boussouar A, Kress E, Frau C, Lone IN, Nadjar J, Angelov D, Plateroti M (2015). The thyroid hormone nuclear receptor TRalpha1 controls the Notch signaling pathway and cell fate in murine intestine. Development 142 (16):2764-2774.

Staiano L, De Leo MG, Persico M, De Matteis MA (2015). Mendelian disorders of PI metabolizing enzymes. Biochim Biophys Acta 1851 (6):867-881.

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 10 (4):600-615.

Tamburrino A, Churchill MJ, Wan OW, Colino-Sanguino Y, Ippolito R, Bergstrand S, Wolf DA, Herz NJ, Sconce MD, Bjorklund A, Meshul CK, Decressac M (2015). Cyclosporin promotes neurorestoration and cell replacement therapy in pre-clinical models of Parkinson's disease. Acta Neuropathol Commun 3 84.

Thompson DA, Ali RR, Banin E, Branham KE, Flannery JG, Gamm DM, Hauswirth WW, Heckenlively JR, Iannaccone A, Jayasundera KT, Khan NW, Molday RS, Pennesi ME, Reh TA, Weleber RG, Zacks DN, Monaciano C (2015). Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. Invest Ophthalmol Vis Sci 56 (2):918-931.

Trapani I, Banfi S, Simonelli F, Surace EM, Auricchio A (2015). Gene therapy of inherited retinal degenerations: prospects and challenges. Hum Gene Ther 26 (4):193-200.

Trapani I, Toriello E, de Simone S, Colella P, Iodice C, Polishchuk EV, Sommella A, Colecchi L, Rossi S, Simonelli F, Giunti M, Bacci ML, Polishchuk RS, Auricchio A (2015). Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease. Hum Mol Genet 24 (23):6811-6825.

Vainshtein A, Desjardins EM, Armani A, Sandri M, Hood DA (2015). PGC-1alpha modulates denervation-induced mitophagy in skeletal muscle. Skelet Muscle 5 9.

Ventre S, Indrieri A, Fracassi C, Franco B, Conte I, Cardone L, di Bernardo D (2015). Metabolic regulation of the ultradian oscillator Hes1 by reactive oxygen species. J Mol Biol 427 (10):1887-1902.

Villa F, Carrizzo A, Spinelli CC, Ferrario A, Malovini A, Maciag A, Damato A, Auricchio A, Spinetti G, Sangalli E, Dang Z, Madonna M, Ambrosio M, Sitia L, Bigini P, Cali G, Schreiber S, Perls T, Fucile S, Mulas F, Nebel A, Bellazzi R, Madeddu P, Vecchione C, Puca AA (2015). Genetic Analysis Reveals a Longevity-Associated Protein Modulating Endothelial Function and Angiogenesis. Circ Res 117 (4):333-345.

Xiao Q, Yan P, Ma X, Liu H, Perez R, Zhu A, Gonzales E, Tripoli DL, Czerniewski L, Ballabio A, Cirrito JR, Diwan A, Lee JM (2015). Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Abeta Generation and Amyloid Plaque Pathogenesis. J Neurosci 35 (35):12137-12151.