Nature Communications (Jul 2020)
C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression
Abstract
C9orf72 repeat expansion is the major genetic cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here, the authors show that transcriptome aberrations commonly found in c9ALS/FTD are a result from defects in cellular RNA surveillance pathways that involve an RNA helicase UPF1.