A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype

Genetic defects in mitochondrial DNA encoded tRNA genes impair mitochondrial translation with resultant defects in the mitochondrial respiratory chain and oxidative phosphorylation system. The phenotypic spectrum of disease seen in mitochondrial tRNA defects is variable and proving pathogenicity of...

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Détails bibliographiques
Publié dans:Mol Genet Metab
Auteurs principaux: Kripps, Kimberly A., Friederich, Marisa W., Chen, Ting, Larson, Austin A., Mirsky, David M., Wang, Yue, Tanji, Kurenai, Knight, Kaz M., Wong, Lee-Jun, Van Hove, Johan L.K.
Format: Artigo
Langue:Inglês
Publié: 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7749820/
https://ncbi.nlm.nih.gov/pubmed/33279411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.11.006
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