A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene.

@article{Rak2007AYM,
  title={A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene.},
  author={Malgorzata Rak and Emmanuel T{\'e}taud and St{\'e}phane Duvezin-Caubet and Nahia Ezkurdia and Ma{\"i}lis Bietenhader and J Rytka Rytka and Jean-Paul di Rago},
  journal={The Journal of biological chemistry},
  year={2007},
  volume={282 47},
  pages={34039-47}
}
NARP (neuropathy, ataxia, and retinitis pigmentosa) and MILS (maternally inherited Leigh syndrome) are mitochondrial disorders associated with point mutations of the mitochondrial DNA (mtDNA) in the gene encoding the Atp6p subunit of the ATP synthase. The most common and studied of these mutations is T8993G converting the highly conserved leucine 156 into arginine. We have introduced this mutation at the corresponding position (183) of yeast Saccharomyces cerevisiae mitochondrially encoded… CONTINUE READING