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A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNA(Glu) and Mitochondrial Dysfunction
Several mitochondrial tRNA mutations have been associated with maternally inherited diabetes and deafness. However, the pathophysiology of these tRNA mutations remains poorly understood. In this report, we identified the novel homoplasmic 14692A→G mutation in the mitochondrial tRNA(Glu) gene among t...
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| 出版年: | J Biol Chem |
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| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society for Biochemistry and Molecular Biology
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5076513/ https://ncbi.nlm.nih.gov/pubmed/27519417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.739482 |
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