Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses

@inproceedings{NavarroGonzlez2017MutationsIT,
  title={Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses},
  author={Carmen Navarro-Gonz{\'a}lez and Isma{\"i}l Moukadiri and Magda Villarroya and Ernesto L{\'o}pez-Pascual and Simon Tuck and M. Eugenia Armengod},
  booktitle={PLoS genetics},
  year={2017}
}
Several oxidative phosphorylation (OXPHOS) diseases are caused by defects in the post-transcriptional modification of mitochondrial tRNAs (mt-tRNAs). Mutations in MTO1 or GTPBP3 impair the modification of the wobble uridine at position 5 of the pyrimidine ring and cause heart failure. Mutations in TRMU affect modification at position 2 and cause liver… CONTINUE READING