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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2016
Fag:
RNA
Online adgang: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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