Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the ANXA11 gene in 13 individuals. The p.D40G mutation was absent from 70,000 control whole-exome sequences. This mut...

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Publicado no:Sci Transl Med
Main Authors: Smith, Bradley N., Topp, Simon D., Fallini, Claudia, Shibata, Hideki, Chen, Han-Jou, Troakes, Claire, King, Andrew, Ticozzi, Nicola, Kenna, Kevin P., Soragia-Gkazi, Athina, Miller, Jack W., Sato, Akane, Dias, Diana Marques, Jeon, Maryangel, Vance, Caroline, Wong, Chun Hao, de Majo, Martina, Kattuah, Wejdan, Mitchell, Jacqueline C., Scotter, Emma L., Parkin, Nicholas W., Sapp, Peter C., Nolan, Matthew, Nestor, Peter J., Simpson, Michael, Weale, Michael, Lek, Monkel, Baas, Frank, de Jong, J. M. Vianney, ten Asbroek, Anneloor L. M. A., Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Leigh, Nigel, Pall, Hardev, Morrison, Karen E., Al-Chalabi, Ammar, Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Maki, Masatoshi, Moss, Stephen E., Miller, Christopher, Gellera, Cinzia, Ratti, Antonia, Al-Sarraj, Safa, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6599403/
https://ncbi.nlm.nih.gov/pubmed/28469040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aad9157
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