Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

@inproceedings{Martelli2012UnderstandingTG,
  title={Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models},
  author={Alain Martelli and Marek Napierala and H{\'e}l{\`e}ne M Puccio},
  booktitle={Disease models & mechanisms},
  year={2012}
}
In 1996, a link was identified between Friedreich's ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN). Initial studies revealed that the disease is caused by a unique, most frequently biallelic, expansion of the GAA sequence in intron 1 of FXN. Since the identification of this link, there has been tremendous progress in understanding frataxin function and the mechanism of FRDA pathology, as well as in developing diagnostics and… CONTINUE READING
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Mammalian frataxin: an essential function for cellular Disease Models & Mechanisms

  • S. Schmucker, A. Martelli, +4 authors H. Puccio
  • 2011
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