Nature Communications (Nov 2020)

Sigma-1 receptor chaperones rescue nucleocytoplasmic transport deficit seen in cellular and Drosophila ALS/FTD models

  • Pin-Tse Lee,
  • Jean-Charles Liévens,
  • Shao-Ming Wang,
  • Jian-Ying Chuang,
  • Bilal Khalil,
  • Hsiang-en Wu,
  • Wen-Chang Chang,
  • Tangui Maurice,
  • Tsung-Ping Su

DOI
https://doi.org/10.1038/s41467-020-19396-3
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 14

Abstract

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The (G4C2)-RNA hexanucleotide repeat expansion upstream of the start codon of the C9orf72 gene plays a critical role in familial ALS. The authors show that Sig1R, a ligand-regulated molecular chaperone, counteracts the aberrant nucleocytoplasmic distribution of Ran caused by the (G4C2)-RNA repeats.