Nature Communications (Nov 2022)

An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

  • Florian Krach,
  • Judith Stemick,
  • Tom Boerstler,
  • Alexander Weiss,
  • Ioannis Lingos,
  • Stephanie Reischl,
  • Holger Meixner,
  • Sonja Ploetz,
  • Michaela Farrell,
  • Ute Hehr,
  • Zacharias Kohl,
  • Beate Winner,
  • Juergen Winkler

DOI
https://doi.org/10.1038/s41467-022-34419-x
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 14

Abstract

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Krach et al. dissect the molecular mechanism of the alternative splicing modulator Branaplam in Huntington’s disease. They show that the drug lowers mutant HTT protein levels and ameliorates alternative splicing pathology in an iPSC disease model.