Article
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.
Human molecular genetics - 1 Jul 2013
Vance Caroline, Scotter Emma L, Nishimura Agnes L, Troakes Claire, Mitchell Jacqueline C, Kathe Claudia, Urwin Hazel, Manser Catherine, Miller Christopher C, Hortobágyi Tibor, Dragunow Mike, Rogelj Boris, Shaw Christopher E
Abstract excerpt
Mutations in the gene encoding Fused in Sarcoma (FUS) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. FUS is a predominantly nuclear DNA- and RNA-binding protein that is involved in RNA processing. Large FUS-immunoreactive inclusions fill the perikaryon of surviving motor neurons of ALS patients carrying mutations at post-mortem. This sequestration of FUS is predicted to disrupt RNA...
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