Nature Communications (Nov 2019)

Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy

  • Sven Bervoets,
  • Na Wei,
  • Maria-Luise Erfurth,
  • Shazie Yusein-Myashkova,
  • Biljana Ermanoska,
  • Ligia Mateiu,
  • Bob Asselbergh,
  • David Blocquel,
  • Priyanka Kakad,
  • Tyrone Penserga,
  • Florian P Thomas,
  • Velina Guergueltcheva,
  • Ivailo Tournev,
  • Tanja Godenschwege,
  • Albena Jordanova,
  • Xiang-Lei Yang

DOI
https://doi.org/10.1038/s41467-019-12909-9
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 14

Abstract

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Tyrosyl-tRNA synthetase (TyrRS) is a translation factor and predominantly cytoplasmic, but can also be found in the nucleus. Here authors show using a fly model of Charcot-Marie-Tooth (CMT) disease that nuclear localization of mutant TyrRS contributes to the CMT-like phenotype.