Nature Communications (Oct 2021)

A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation

  • Yoshifumi Sonobe,
  • Jihad Aburas,
  • Gopinath Krishnan,
  • Andrew C. Fleming,
  • Ghanashyam Ghadge,
  • Priota Islam,
  • Eleanor C. Warren,
  • Yuanzheng Gu,
  • Mark W. Kankel,
  • André E. X. Brown,
  • Evangelos Kiskinis,
  • Tania F. Gendron,
  • Fen-Biao Gao,
  • Raymond P. Roos,
  • Paschalis Kratsios

DOI
https://doi.org/10.1038/s41467-021-26303-x
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 17

Abstract

Read online

A hexanucleotide repeat expansion of C9orf72 is translated to dipeptide repeat proteins in amyotrophic lateral sclerosis and frontotemporal dementia patients. Here the authors generate a C. elegans model of C9orf72-mediated ALS/FTD and show that translation initiation factor eIF2D regulates the dipeptide repeat protein expression.