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Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA(Leu(UUR)) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes

Mutations in mitochondrial tRNA genes are associated with a wide spectrum of human diseases. In particular, the tRNA(Leu(UUR)) A3243G mutation causes mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms (MELAS) and 2% of cases of type 2 diabetes. The primary defect in this muta...

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Autors principals: Li, Ronghua, Guan, Min-Xin
Format: Artigo
Idioma:Inglês
Publicat: American Society for Microbiology (ASM) 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2863588/
https://ncbi.nlm.nih.gov/pubmed/20194621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.01614-09
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