Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells.

@article{GmezSebastin2007InfectiousDA,
  title={Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells.},
  author={Silvia G{\'o}mez-Sebasti{\'a}n and Alfredo Gim{\'e}nez-Cassina and Javier D{\'i}az-Nido and Filip Lim and Richard Wade-Martins},
  journal={Molecular therapy : the journal of the American Society of Gene Therapy},
  year={2007},
  volume={15 2},
  pages={248-254}
}
Friedreich's ataxia (FA) is the most common recessive ataxia, affecting 1-2 in 50,000 Caucasians, and there is currently no effective cure or treatment. FA results from a deficiency of the mitochondrial protein frataxin brought about by a repeat expansion in intron 1 of the FRDA gene. The main areas affected are the central nervous system (particularly the spinocerebellar system) and cardiac tissue. Therapies aimed at alleviating the neurological degeneration have proved unsuccessful to date… CONTINUE READING