Article
A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2017
Fifita Jennifer A, Williams Kelly L, Sundaramoorthy Vinod, Mccann Emily P, Nicholson Garth A, Atkin Julie D, Blair Ian P
Abstract excerpt
Mutations in the optineurin gene (OPTN) have been identified in a small proportion (<1%) of sporadic and familial ALS cases, and the exact role of optineurin in the pathogenesis of ALS remains unclear. To further examine the role of OPTN in ALS, we sought to identify novel ALS variants in OPTN and examine their potential for pathogenicity in vitro. Whole exome sequence data from 74 familial ALS cases were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.