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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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Wang, Meng, Liu, Hao, Zheng, Jing, Chen, Bobei, Zhou, Mi, Fan, Wenlu, Wang, Hen, Liang, Xiaoyang, Zhou, Xiaolong, Eriani, Gilbert, Jiang, Pingping, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2016
Assuntos:
RNA
Acesso em linha: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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