Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.

@article{Fontanesi2004MutationsIA,
  title={Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.},
  author={Flavia Fontanesi and Luigi Palmieri and Pasquale Scarcia and Tiziana Lodi and Claudia Donnini and Anna Limongelli and Valeria Tiranti and Massimo Zeviani and Iliana Ferrero and Anna Maria Viola},
  journal={Human molecular genetics},
  year={2004},
  volume={13 9},
  pages={923-34}
}
Autosomal dominant and recessive forms of progressive external ophthalmoplegia (adPEO and arPEO) are mitochondrial disorders characterized by the presence of multiple deletions of mitochondrial DNA in affected tissues. Four adPEO-associated missense mutations have been identified in the ANT1 gene. In order to investigate their functional consequences on cellular physiology, we introduced three of them at equivalent positions in AAC2, the yeast orthologue of human ANT1. We demonstrate here that… CONTINUE READING