Article
A natural non-Watson-Crick base pair in human mitochondrial tRNAThr causes structural and functional susceptibility to local mutations.
Nucleic acids research - 18 May 2018
Wang Yong, Zeng Qi-Yu, Zheng Wen-Qiang, Ji Quan-Quan, Zhou Xiao-Long, Wang En-Duo
Abstract excerpt
Six pathogenic mutations have been reported in human mitochondrial tRNAThr (hmtRNAThr); however, the pathogenic molecular mechanism remains unclear. Previously, we established an activity assay system for human mitochondrial threonyl-tRNA synthetase (hmThrRS). In the present study, we surveyed the structural and enzymatic effects of pathogenic mutations in hmtRNAThr and then focused on m.15915 G > A (G30A) and...
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