Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA(Ser(UCN)) 7511A>G mutation

Nuclear modifier genes have been proposed to modify the phenotypic expression of mitochondrial DNA mutations. Using a targeted exome-sequencing approach, here we found that the p.191Gly>Val mutation in mitochondrial tyrosyl-tRNA synthetase 2 (YARS2) interacts with the tRNA(Ser(UCN)) 7511A>G mu...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Fan, Wenlu, Zheng, Jing, Kong, Wanzhong, Cui, Limei, Aishanjiang, Maerhaba, Yi, Qiuzi, Wang, Min, Cang, Xiaohui, Tang, Xiaowen, Chen, Ye, Mo, Jun Qin, Sondheimer, Neal, Ge, Wanzhong, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2019
Assuntos:
RNA
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6916496/
https://ncbi.nlm.nih.gov/pubmed/31685661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.010598
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