Article
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.
Human mutation - 1 May 2010
DeJesus-Hernandez Mariely, Kocerha Jannet, Finch NiCole, Crook Richard, Baker Matt, Desaro Pamela, Johnston Amelia, Rutherford Nicola, Wojtas Aleksandra, Kennelly Kathleen, Wszolek Zbigniew K, Graff-Radford Neill, Boylan Kevin, Rademakers Rosa
Abstract excerpt
Mutations in the gene encoding fused in sarcoma (FUS) were recently identified as a novel cause of amyotrophic lateral sclerosis (ALS), emphasizing the genetic heterogeneity of ALS. We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS in 99 sporadic and 17 familial ALS patients ascertained at Mayo Clinic. We identified two novel mutations in FUS in two out of 99...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.