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Article

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

Nucleic acids research - 1 Jul 2014

Gong Shasha, Peng Yanyan, Jiang Pingping, Wang Meng, Fan Mingjie, Wang Xinjian, Zhou Hong, Li Huawei, Yan Qingfeng, Huang Taosheng, Guan Min-Xin

Abstract excerpt

In this report, we investigated the molecular genetic mechanism underlying the deafness-associated mitochondrial tRNAHis 12201T>C mutation. The destabilization of a highly conserved base-pairing (5A-68U) by the m.12201T>C mutation alters structure and function of tRNAHis. Using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from a Chinese family into mtDNA-less (ρo) cells,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24920829
DOI: 10.1093/nar/gku466
PMCID: PMC4081083

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