COLOMBRITA, CLAUDIA
COLOMBRITA, CLAUDIA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Rapamycin reverts TDP-43 splicing defects and mislocalization in human in vitro models of TDP-43 proteinopathy
2023 V. Casiraghi, C. Colombrita, S. Santangelo, S. Invernizzi, M.N. Sorce, P. Bossolasco, V. Silani, A. Ratti
Influence of kidney function and CSF/serum albumin ratio on plasma Aβ42 and Aβ40 levels measured on a fully automated platform in patients with Alzheimer’s disease
2023 F. Verde, I. Milone, A. Dubini, C. Colombrita, A. Perego, F. Solca, A. Maranzano, E. Ciusani, B. Poletti, A. Ratti, E. Torresani, V. Silani, N. Ticozzi
U1 snRNA as a novel RNA-based therapeutic approach to modulate C9ORF72 pathology in patient-derived iPSC-motoneurons
2023 S. Invernizzi, S. Santangelo, E. Bussani, G. Romano, C. Colombrita, V. Casiraghi, M. Nice Sorce, P. Bossolasco, V. Silani, F. Pagani, A. Ratti
Human motor neurons derived from induced pluripotent stem cells are susceptible to SARS-CoV-2 infection
2023 G. Cappelletti, C. Colombrita, F. Limanaqi, S. Invernizzi, M. Garziano, C. Vanetti, C. Moscheni, S. Santangelo, S. Zecchini, D. Trabattoni, V. Silani, M. Clerici, A. Ratti, M. Biasin
Human in vitro models of TDP-43 proteinopathy for drug screening approaches
2022 V. Casiraghi, C. Colombrita, S. Santangelo, S. Invernizzi, M.N. Sorce, V. Silani, A. Ratti
Rapamycin reverts TDP-43 splicing defects and oxidative stress-induced alterations in a human in vitro model of TDP-43 proteinopathy
2022 V. Casiraghi, C. Colombrita, S. Santangelo, I. Milone, M.N. Sorce, V. Silani, A. Ratti
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
Modeling a novel N-terminal mutation of KIF5A gene in patient-derived iPSC-motoneurons
2022 S. Santangelo, P. Bossolasco, C. Fallini, S. Magri, M. Bertocchi, S. Invernizzi, D. Di Bella, D. Bardelli, C. Colombrita, V. Silani, F. Taroni, A. Ratti
Modelling ALS disease by 2D and 3D in vitro models of patient-derived iPSC
2022 P. Bossolasco, S. Santangelo, L. Lattuada, M.N. Sorce, C. Colombrita, V. Casiraghi, S. Peverelli, A. Ratti, V. Silani
Characterization of iPSC-motoneurons from a HSP patient with a novel mutation in KIF5A N-terminal region Characterization of iPSCmotoneurons from a HSP patient with a novel mutation in KIF5A N-terminal region
2022 S. Santangelo, P. Bossolasco, C. Fallini, S. Magri, M. Bertocchi, S. Invernizzi, D. Di Bella, D. Bardelli, C. Colombrita, V. Silani, F. Taroni, 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
Rapamycin reverts TDP-43 splicing defects and mislocalization in human in vitro models of TDP-43 proteinopathy
2022 V. Casiraghi, C. Colombrita, S. Santangelo, I. Milone, M.N. Sorce, V. Silani, A. Ratti
Rapamycin reverts TDP-43 splicing defects and mislocalization in human in vitro models of TDP-43 proteinopathy
2022 V. Casiraghi, C. Colombrita, S. Santangelo, I. Milone, M.N. Sorce, V. Silani, 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
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 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
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 the C9ORF72-NEK1 double 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
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