Sfoglia per Autore
hnRNPA2/B1 and nELAV proteins bind to a specific U-rich element in CDK5R1 3'-UTR and oppositely regulate its expression
2014 P. Zuccotti, C. Colombrita, S. Moncini, A. Barbieri, M. Lunghi, C. Gelfi, S. De Palma, A. Nicolin, A. Ratti, M. Venturin, P. Riva
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
2014 B.N. Smith, N. Ticozzi, C. Fallini, A.S. Gkazi, S. Topp, K.P. Kenna, E.L. Scotter, J. Kost, P. Keagle, J.W. Miller, D. Calini, C. Vance, E.W. Danielson, C. Troakes, C. Tiloca, S. Al Sarraj, E.A. Lewis, A. King, C. Colombrita, V. Pensato, B. Castellotti, J. de Belleroche, F. Baas, A. LMA ten Asbroek, P.C. Sapp, D. McKenna Yasek, R.L. Mclaughlin, M. Polak, S. Asress, J. Esteban Pérez, J.L. Muñoz Blanco, M. Simpson, S. D’Alfonso, L. Mazzini, G.P. Comi, R. Del Bo, M. Ceroni, S. Gagliardi, G. Querin, C. Bertolin, W. van Rheenen, F.P. Diekstra, G. Lauria, S. Duga, S. Corti, C. Cereda, L. Corrado, G. Sorarù, K.E. Morrison, K.L. Williams, G.A. Nicholson, I.P. Blair, P.A. Dion, C.S. Leblond, G.A. Rouleau, O. Hardiman, J.H. Veldink, L.H. van den Berg, A. Al Chalabi, H. Pall, P.J. Shaw, M.R. Turner, K. Talbot, F. Taroni, A. García Redondo, Z. Wu, J.D. Glass, C. Gellera, A. Ratti, R.H. Brown, V. Silani, C.E. Shaw, J.E. Landers
Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins
2015 A. Vicario, A. Colliva, A. Ratti, L. Davidovic, G. Baj, Ł. Gricman, C. Colombrita, A. Pallavicini, K. Jones, B. Bardoni, E. Tongiorgi
From transcriptomic to protein level changes in TDP-43 and FUS loss-of-function cell models
2015 C. Colombrita, E. Onesto, E. Buratti, P. de la Grange, V. Gumina, F.E. Baralle, V. Silani, A. Ratti
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts
2016 E. Onesto, C. Colombrita, V. Gumina, M.O. Borghi, S. Dusi, A. Doretti, G. Fagiolari, F. Invernizzi, M. Moggio, V. Tiranti, V. Silani, A. Ratti
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
2016 K.P. Kenna, P.T.C. van Doormaal, A.M. Dekker, N. Ticozzi, B.J. Kenna, F.P. Diekstra, W. van Rheenen, K.R. van Eijk, A.R. Jones, P. Keagle, A. Shatunov, W. Sproviero, B.N. Smith, M.A. van Es, S.D. Topp, A. Kenna, J.W. Miller, C. Fallini, C. Tiloca, R.L. Mclaughlin, C. Vance, C. Troakes, C. Colombrita, G. Mora, A. Calvo, F. Verde, S. Al Sarraj, A. King, D. Calini, J. de Belleroche, F. Baas, A.J. van der Kooi, M. de Visser, A.L.M.A. Ten Asbroek, P.C. Sapp, D. McKenna Yasek, M. Polak, S. Asress, J.L. Muñoz Blanco, T.M. Strom, T. Meitinger, K.E. Morrison, G. LAURIA PINTER, K.L. Williams, P.N. Leigh, G.A. Nicholson, I.P. Blair, C.S. Leblond, P.A. Dion, G.A. Rouleau, H. Pall, P.J. Shaw, M.R. Turner, K. Talbot, F. Taroni, K.B. Boylan, M. Van Blitterswijk, R. Rademakers, J. Esteban Pérez, A. García Redondo, P. Van Damme, W. Robberecht, A. Chio, C. Gellera, C. Drepper, M. Sendtner, A. Ratti, J.D. Glass, J.S. Mora, N.A. Basak, O. Hardiman, A.C. Ludolph, P.M. Andersen, J.H. Weishaupt, R.H. Brown, A. Al Chalabi, V. Silani, C.E. Shaw, L.H. van den Berg, J.H. Veldink, J.E. Landers
PKC Activation Counteracts ADAM10 Deficit in HuD-Silenced Neuroblastoma Cells
2016 N. Marchesi, M. Amadio, C. Colombrita, S. Govoni, A. Ratti, A. Pascale
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
2017 M..T. Bonati, F. Verde, U. Hladnik, P. Cattelan, L. Campana, C. Castronovo, N. Ticozzi, L. Maderna, C. Colombrita, S. Papa, P. Banfi, V. Silani
No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis
2018 C. Tiloca, M. Sorosina, F. Esposito, S. Peroni, C. Colombrita, N. Ticozzi, A. Ratti, F. Martinelli Boneschi, V. Silani
Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases
2018 L. Corrado, C. Tiloca, C. Locci, A. Bagarotti, H. Hamzeiy, C. Colombrita, F. De marchi, N. Barizzone, D. Cotella, N. Ticozzi, L. Mazzini, A. Nazli Basak, A. Ratti, V. Silani, S. D’Alfonso
TDP-43 and NOVA-1 RNA-binding proteins as competitive splicing regulators of the schizophrenia-associated TNIK gene
2019 V. Gumina, C. Colombrita, C. Fallini, P. Bossolasco, A.M. Maraschi, J.E. Landers, V. Silani, A. Ratti
Response to the commentary “The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases” by Biasiotto G and Zanella I.
2019 C. Tiloca, M. Sorosina, F. Esposito, S. Peroni, C. Colombrita, N. Ticozzi, A. Ratti, F.M. Boneschi, V. Silani
Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes
2021 A. Ratti, S. Peverelli, E. D'Adda, C. Colombrita, M. Gennuso, A. Prelle, V. Silani
SUMOylation regulates TDP-43 splicing activity and nucleocytoplasmic distribution
2021 A.M. Maraschi, V. Gumina, J. Dragotto, C. Colombrita, M. Mompean, E. Buratti, V. Silani, M. Feligioni, A. Ratti
Effect of NEK1/C9ORF72 double mutation on DNA damage response in patient-derived neural stem cells
2021 S. Santangelo, C. Colombrita, P. Bossolasco, S. Peverelli, S. Invernizzi, A. Brusati, V. Gumina, D. Bardelli, N. Ticozzi, V. Silani, A. Ratti
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
2021 J.O. Johnson, R. Chia, D.E. Miller, R. Li, R. Kumaran, Y. Abramzon, N. Alahmady, A.E. Renton, S.D. Topp, J.R. Gibbs, M.R. Cookson, M.S. Sabir, C.L. Dalgard, C. Troakes, A.R. Jones, A. Shatunov, A. Iacoangeli, A. Al Khleifat, N. Ticozzi, V. Silani, C. Gellera, I.P. Blair, C. Dobson-Stone, J.B. Kwok, E.S. Bonkowski, R. Palvadeau, P.J. Tienari, K.E. Morrison, P.J. Shaw, A. Al-Chalabi, R.H. Brown, A. Calvo, G. Mora, H. Al-Saif, M. Gotkine, F. Leigh, I.J. Chang, S.J. Perlman, I. Glass, A.I. Scott, C.E. Shaw, A.N. Basak, J.E. Landers, A. Chio, T.O. Crawford, B.N. Smith, B.J. Traynor, B.N. Smith, N. Ticozzi, C. Fallini, A.S. Gkazi, S.D. Topp, E.L. Scotter, K.P. Kenna, P. Keagle, C. Tiloca, C. Vance, C. Troakes, C. Colombrita, A. King, V. Pensato, B. Castellotti, F. Baas, A.L.M.A. Ten Asbroek, D. McKenna-Yasek, R.L. McLaughlin, M. Polak, S. Asress, J. Esteban-Perez, Z. Stevic, S. D'Alfonso, L. Mazzini, G.P. Comi, R. Del Bo, M. Ceroni, S. Gagliardi, G. Querin, C. Bertolin, W. Van Rheenen, R. Rademakers, M. Van Blitterswijk, G. Lauria, S. Duga, S. Corti, C. Cereda, L. Corrado, G. Soraru, K.L. Williams, G.A. Nicholson, I.P. Blair, C. Leblond-Manry, G.A. Rouleau, O. Hardiman, K.E. Morrison, J.H. Veldink, L.H. Van Den Berg, A. Al-Chalabi, H. Pall, P.J. Shaw, M.R. Turner, K. Talbot, F. Taroni, A. Garcia-Redondo, Z. Wu, J.D. Glass, C. Gellera, A. Ratti, R.H. Brown, V. Silani, C.E. Shaw, J.E. Landers, C.L. Dalgard, A. Adeleye, A.R. Soltis, C. Alba, C. Viollet, D. Bacikova, D.N. Hupalo, G. Sukumar, H.B. Pollard, M.D. Wilkerson, E.M. Martinez, Y. Abramzon, S. Ahmed, S. Arepalli, R.H. Baloh, R. Bowser, C.B. Brady, A. Brice, J. Broach, R.H. Campbell, W. Camu, R. Chia, J. Cooper-Knock, J. Ding, C. Drepper, V.E. Drory, T.L. Dunckley, J.D. Eicher, B.K. England, F. Faghri, E. Feldman, M.K. Floeter, P. Fratta, J.T. Geiger, G. Gerhard, J.R. Gibbs, S.B. Gibson, J.D. Glass, J. Hardy, M.B. Harms, T.D. Heiman-Patterson, D.G. Hernandez, L. Jansson, J. Kirby, N.W. Kowall, H. Laaksovirta, N. Landeck, F. Landi, I. Le Ber, S. Lumbroso, D.J.L. Macgowan, N.J. Maragakis, G. Mora, K. Mouzat, N.A. Murphy, L. Myllykangas, M.A. Nalls, R.W. Orrell, L.W. Ostrow, R. Pamphlett, S. Pickering-Brown, E.P. Pioro, O. Pletnikova, H.A. Pliner, S.M. Pulst, J.M. Ravits, A.E. Renton, A. Rivera, W. Robberecht, E. Rogaeva, S. Rollinson, J.D. Rothstein, S.W. Scholz, M. Sendtner, P.J. Shaw, K.C. Sidle, Z. Simmons, A.B. Singleton, N. Smith, D.J. Stone, P.J. Tienari, J.C. Troncoso, M. Valori, P. Van Damme, V.M. Van Deerlin, L. Van Den Bosch, L. Zinman, J.E. Landers, A. Chio, B.J. Traynor, S.M. Angelocola, F.P. Ausiello, M. Barberis, I. Bartolomei, S. Battistini, E. Bersano, G. Bisogni, G. Borghero, M. Brunetti, C. Cabona, A. Calvo, F. Canale, A. Canosa, T.A. Cantisani, M. Capasso, C. Caponnetto, P. Cardinali, P. Carrera, F. Casale, A. Chio, T. Colletti, F.L. Conforti, A. Conte, E. Conti, M. Corbo, S. Cuccu, E. Dalla Bella, E. D'Errico, G. Demarco, R. Dubbioso, C. Ferrarese, P.M. Ferraro, M. Filippi, N. Fini, G. Floris, G. Fuda, S. Gallone, G. Gianferrari, F. Giannini, M. Grassano, L. Greco, B. Iazzolino, A. Introna, V. La Bella, S. Lattante, G. Lauria, R. Liguori, G. Logroscino, F.O. Logullo, C. Lunetta, P. Mandich, J. Mandrioli, U. Manera, F. Manganelli, G. Marangi, K. Marinou, M.G. Marrosu, I. Martinelli, S. Messina, C. Moglia, G. Mora, L. Mosca, M.R. Murru, P. Origone, C. Passaniti, C. Petrelli, A. Petrucci, S. Pozzi, M. Pugliatti, A. Quattrini, C. Ricci, G. Riolo, N. Riva, M. Russo, M. Sabatelli, P. Salamone, M. Salivetto, F. Salvi, M. Santarelli, L. Sbaiz, R. Sideri, I. Simone, C. Simonini, R. Spataro, R. Tanel, G. Tedeschi, A. Ticca, A. Torriello, S. Tranquilli, L. Tremolizzo, F. Trojsi, R. Vasta, V. Vacchiano, G. Vita, P. Volanti, M. Zollino, E. Zucchi
Effect of NEK1/C9ORF72 double mutation on DNA damage response in neural stem cells and motoneurons derived from Amyotrophic Lateral Sclerosis patient
2021 S. Santangelo, C. Colombrita, P. Bossolasco, S. Peverelli, S. Invernizzi, A. Brusati, V. Gumina, D. Bardelli, N. Ticozzi, V. Silani, A. Ratti
Effect of the C9ORF72-NEK1 dobuble mutation on DNA damage response in patient-derived iPSC-motoneurons
2021 S. Santangelo, C. Colombrita, P. Bossolasco, S. Peverelli, S. Invernizzi, A. Brusati, V. Gumina, D. Bardelli, N. Ticozzi, V. Silani, A. Ratti
Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis
2022 E. Colombo, B. Poletti, A. Maranzano, S. Peverelli, F. Solca, C. Colombrita, S. Torre, C. Tiloca, F. Verde, R. Bonetti, L. Carelli, C. Morelli, A. Ratti, V. Silani, N. Ticozzi
U1 snRNA as a novel RNA-based therapeutic approach to modulate C9ORF72 pathology in patient-derived iPSC-motoneurons
2022 S. Santangelo, C. Colombrita, E. Bussani, S. Invernizzi, M. Nice Sorce, V. Casiraghi, C. Lattuada, P. Bossolasco, V. Silani, F. Pagani, A. Ratti
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