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

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)33-36
Number of pages4
Issue number2
StatePublished - Mar 15 2015
Externally publishedYes


  • Friedreich's ataxia
  • GAA repeats
  • R-loops
  • antisense transcription
  • repeat expansion diseases
  • transcription termination

ASJC Scopus subject areas

  • Biotechnology
  • Biochemistry
  • Genetics


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