Nature Communications (Jul 2020)

C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression

  • Yu Sun,
  • Aziz Eshov,
  • Jeffrey Zhou,
  • Atagun U. Isiktas,
  • Junjie U. Guo

DOI
https://doi.org/10.1038/s41467-020-17129-0
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 9

Abstract

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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.