Article
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Neurobiology of aging - 1 Mar 2015
Smith Bradley N, Vance Caroline, Scotter Emma L, Troakes Claire, Wong Chun Hao, Topp Simon, Maekawa Satomi, King Andrew, Mitchell Jacqueline C, Lund Karan, Al-Chalabi Ammar, Ticozzi Nicola, Silani Vincenzo, Sapp Peter, Brown Robert H, Landers John E, Al-Sarraj Safa, Shaw Christopher E
Abstract excerpt
Mutations in the gene encoding profilin 1 (PFN1) have recently been shown to cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. We sequenced the PFN1 gene in a cohort of ALS patients (n = 485) and detected 2 novel variants (A20T and Q139L), as well as 4 cases with the previously identified E117G rare variant (∼ 1.2%). A case-control meta-analysis of all published E117G ALS+/-...
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