Article
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Science translational medicine - 3 May 2017
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, Vianney de Jong J M, 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
Abstract excerpt
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 mutation segregated with disease in two kindreds and was present in another two unrelated cases (P = 0.0102), and all...
Read the complete abstract on PubMed