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Article

Hearing impairment-associated KARS mutations lead to defects in aminoacylation of both cytoplasmic and mitochondrial tRNALys.

Science China. Life sciences - 1 Aug 2020

Wang Yong, Zhou Jing-Bo, Zeng Qi-Yu, Wu Siqi, Xue Mei-Qin, Fang Pengfei, Wang En-Duo, Zhou Xiao-Long

Abstract excerpt

Aminoacyl-tRNA synthetases (aaRSs) are ubiquitously expressed, essential enzymes, synthesizing aminoacyl-tRNAs for protein synthesis. Functional defects of aaRSs frequently cause various human disorders. Human KARS encodes both cytosolic and mitochondrial lysyl-tRNA synthetases (LysRSs). Previously, two mutations (c.1129G>A and c.517T>C) were identified that led to hearing impairment; however, the underlying...

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PMID: 32189241
DOI: 10.1007/s11427-019-1619-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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