Friedreich's ataxia – a case of aberrant transcription termination?

Academic Article


  • © 2015 The Author(s). Published with license by Taylor & Francis Group, LLC. Reduced expression of the mitochondrial protein Frataxin (FXN) is the underlying cause of Friedreich's ataxia. We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation as a novel mechanism of transcriptional repression in Friedreich's ataxia.
  • Digital Object Identifier (doi)

    Author List

  • Butler JS; Napierala M
  • Start Page

  • 33
  • End Page

  • 36
  • Volume

  • 6
  • Issue

  • 2