Contribution of the tRNA(Ile) 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation

The 1555A→G mutation in mitochondrial 12S rRNA has been associated with aminoglycoside-induced and non-syndromic deafness in many individuals worldwide. Mitochondrial genetic modifiers are proposed to influence the phenotypic expression of m.1555A→G mutation. Here, we report that a deafness-suscepti...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Meng, Feilong, He, Zheyun, Tang, Xiaowen, Zheng, Jing, Jin, Xiaofen, Zhu, Yi, Ren, Xiaoyan, Zhou, Mi, Wang, Meng, Gong, Shasha, Mo, Jun Qin, Shu, Qiang, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2018
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836119/
https://ncbi.nlm.nih.gov/pubmed/29348176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA117.000530
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