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  1. No Access

    Article

    Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

    Mitochondrial protein synthesis is initiated by formylated tRNA-methionine, which requires the activity of MTFMT, a methionyl-tRNA formyltransferase. Mutations in MTFMT have been associated with Leigh syndrome, e...

    Roberta La Piana, Woranontee Weraarpachai, Luis H. Ospina… in neurogenetics (2017)

  2. No Access

    Article

    Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

    Eric Shoubridge and colleagues report the identification of a mutation in the CCDC44 gene that is causal in a Leigh syndrome pedigree. The CCDC44 gene product, TACO1, is involved in mitochondrial translation and ...

    Woranontee Weraarpachai, Hana Antonicka, Florin Sasarman, Jürgen Seeger… in Nature Genetics (2009)