Article
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Annals of clinical and translational neurology - 1 Dec 2019
Naumann Marcel, Peikert Kevin, Günther Rene, van der Kooi Anneke J, Aronica Eleonora, Hübers Annemarie, Danel Veronique, Corcia Philippe, Pan-Montojo Francisco, Cirak Sebahattin, Haliloglu Göknur, Ludolph Albert C, Goswami Anand, Andersen Peter M, Prudlo Johannes, Wegner Florian, Van Damme Philip, Weishaupt Jochen H, Hermann Andreas
Abstract excerpt
OBJECTIVE: Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS-ALS, but their clinical significance per se and their influence on...
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