Data di Pubblicazione:
2015
Citazione:
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways / E. T Cirulli, B. N Lasseigne, S. Petrovski, P. C Sapp, P. A Dion, C. S Leblond, J. Couthouis, Y. Lu, Q. Wang, B. J Krueger, Z. Ren, J. Keebler, Y. Han, S. E Levy, B. E Boone, J. R Wimbish, L. L Waite, A. L Jones, J. P Carulli, A. G Day-Williams, J. F Staropoli, W. W Xin, A. Chesi, A. R Raphael, D. McKenna-Yasek, J. Cady, J.M. B Vianney De Jong, K. P Kenna, B. N Smith, S. Topp, J. Miller, A. Gkazi, A. Al-Chalabi, L. H Van Den Berg, J. Veldink, V. Silani, N. Ticozzi, C. E Shaw, R. H Baloh, S. Appel, E. Simpson, C. Lagier-Tourenne, S. M Pulst, S. Gibson, J. Q Trojanowski, L. Elman, L. Mccluskey, M. Grossman, N. A Shneider, W. K Chung, J. M Ravits, J. D Glass, K. B Sims, V. M Van Deerlin, T. Maniatis, S. D Hayes, A. Ordureau, S. Swarup, J. Landers, F. Baas, A. S Allen, R. S Bedlack, J. Wade Harper, A. D Gitler, G. A Rouleau, R. Brown, M. B Harms, G. M Cooper, T. Harris, R. M Myers, D. B Goldstein, P. C Sapp, C. S Leblond, D. McKenna-Yasek, K. P Kenna, B. N Smith, S. Topp, J. Miller, A. Gkazi, A. Al-Chalabi, L. H Van Den Berg, J. Veldink, V. Silani, N. Ticozzi, J. Landers, F. Baas, C. E Shaw, J. D Glass, G. A Rouleau, R. Brown, O. Hardiman, R. L Mclaughlin, L. Mazzini, I. P Blair, K. L Williams, G. A Nicholson, S. Al-Sarraj, A. King, E. L Scotter, S. Topp, C. Troakes, C. Vance, S. D'Alfonso, S. Duga, L. Corrado, A.L.M. A Ten Asbroek, D. Calini, C. Colombrita, A. Ratti, C. Tiloca, Z. Wu, S. Asress, M. Polak, F. Diekstra, W. Van Rheenen, E. W Danielson, C. Fallini, P. Keagle, E. A Lewis, J. Kost, G. Sorarù, C. Bertolin, G. Querin, B. Castellotti, C. Gellera, V. Pensato, F. Taroni, C. Cereda, S. Gagliardi, M. Ceroni, G. Lauria, J. De Belleroche, G. P Comi, S. Corti, R. Del Bo, M. R Turner, K. Talbot, H. Pall, K. E Morrison, P. J Shaw, J. Esteban-Pérez, A. García-Redondo, J. Luis Muñoz-Blanco. - In: SCIENCE. - ISSN 1095-9203. - 347:6229(2015 Mar 27), pp. 1436-1441. [10.1126/science.aaa3650]
Abstract:
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. Here we report the results of a moderate-scale sequencing study aimed at identifying new genes contributing to predisposition for ALS. We performed whole exome sequencing of 2,874 ALS patients and compared them to 6,405 controls. Several known ALS genes were found to be associated, and the non-canonical IκB kinase family TANK-Binding Kinase 1 (TBK1) was identified as an ALS gene. TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS. These observations reveal a key role of the autophagic pathway in ALS and suggest specific targets for therapeutic intervention.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
E. T Cirulli, B. N Lasseigne, S. Petrovski, P. C Sapp, P. A Dion, C. S Leblond, J. Couthouis, Y. Lu, Q. Wang, B. J Krueger, Z. Ren, J. Keebler, Y. Han, S. E Levy, B. E Boone, J. R Wimbish, L. L Waite, A. L Jones, J. P Carulli, A. G Day-Williams, J. F Staropoli, W. W Xin, A. Chesi, A. R Raphael, D. McKenna-Yasek, J. Cady, J.M. B Vianney De Jong, K. P Kenna, B. N Smith, S. Topp, J. Miller, A. Gkazi, A. Al-Chalabi, L. H Van Den Berg, J. Veldink, V. Silani, N. Ticozzi, C. E Shaw, R. H Baloh, S. Appel, E. Simpson, C. Lagier-Tourenne, S. M Pulst, S. Gibson, J. Q Trojanowski, L. Elman, L. Mccluskey, M. Grossman, N. A Shneider, W. K Chung, J. M Ravits, J. D Glass, K. B Sims, V. M Van Deerlin, T. Maniatis, S. D Hayes, A. Ordureau, S. Swarup, J. Landers, F. Baas, A. S Allen, R. S Bedlack, J. Wade Harper, A. D Gitler, G. A Rouleau, R. Brown, M. B Harms, G. M Cooper, T. Harris, R. M Myers, D. B Goldstein, P. C Sapp, C. S Leblond, D. McKenna-Yasek, K. P Kenna, B. N Smith, S. Topp, J. Miller, A. Gkazi, A. Al-Chalabi, L. H Van Den Berg, J. Veldink, V. Silani, N. Ticozzi, J. Landers, F. Baas, C. E Shaw, J. D Glass, G. A Rouleau, R. Brown, O. Hardiman, R. L Mclaughlin, L. Mazzini, I. P Blair, K. L Williams, G. A Nicholson, S. Al-Sarraj, A. King, E. L Scotter, S. Topp, C. Troakes, C. Vance, S. D'Alfonso, S. Duga, L. Corrado, A.L.M. A Ten Asbroek, D. Calini, C. Colombrita, A. Ratti, C. Tiloca, Z. Wu, S. Asress, M. Polak, F. Diekstra, W. Van Rheenen, E. W Danielson, C. Fallini, P. Keagle, E. A Lewis, J. Kost, G. Sorarù, C. Bertolin, G. Querin, B. Castellotti, C. Gellera, V. Pensato, F. Taroni, C. Cereda, S. Gagliardi, M. Ceroni, G. Lauria, J. De Belleroche, G. P Comi, S. Corti, R. Del Bo, M. R Turner, K. Talbot, H. Pall, K. E Morrison, P. J Shaw, J. Esteban-Pérez, A. García-Redondo, J. Luis Muñoz-Blanco
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