Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency()

Mitochondrial aminoacyl-tRNA synthetases (aaRSs) are essential enzymes in protein synthesis since they charge tRNAs with their cognate amino acids. Mutations in the genes encoding mitochondrial aaRSs have been associated with a wide spectrum of human mitochondrial diseases. Here we report the identi...

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Autores principales: Almalki, Abdulraheem, Alston, Charlotte L., Parker, Alasdair, Simonic, Ingrid, Mehta, Sarju G., He, Langping, Reza, Mojgan, Oliveira, Jorge M.A., Lightowlers, Robert N., McFarland, Robert, Taylor, Robert W., Chrzanowska-Lightowlers, Zofia M.A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier Pub. Co 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3898479/
https://ncbi.nlm.nih.gov/pubmed/24161539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.10.008
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