Article
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
Biochemistry - 4 Feb 2003
Park Hyejeong, Davidson Edgar, King Michael P
Abstract excerpt
Mutations of mtDNA, particularly those in mtDNA-encoded tRNA genes, are emerging as a significant cause of human disease. We examined the effects of the pathogenic A3243G and T3271C mutations in the mitochondrial tRNA(Leu(UUR)) gene on the aminoacylation of tRNA(Leu(UUR)). Transmitochondrial cells carrying these mutations have decreased steady-state levels of mitochondrial tRNA(Leu(UUR)). The A3243G mutation also...
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