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Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

Point mutations in the mitochondrial (mt) tRNA(Leu(UUR)) gene are responsible for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a subgroup of mitochondrial encephalomyopathic diseases. We previously showed that mt tRNA(Leu(UUR)) with an A3243G or T3271C m...

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Detalhes bibliográficos
Main Authors: Kirino, Yohei, Yasukawa, Takehiro, Ohta, Shigeo, Akira, Shigeo, Ishihara, Kaisuke, Watanabe, Kimitsuna, Suzuki, Tsutomu
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC524061/
https://ncbi.nlm.nih.gov/pubmed/15477592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0405173101
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