Article
Human mitochondrial diseases associated with tRNA wobble modification deficiency.
RNA biology - 1 Apr 2005
Kirino Yohei, Suzuki Tsutomu
Abstract excerpt
A growing number of mutations in mitochondrial (mt) tRNA genes have been found to associate with human mitochondrial diseases. Our previous analysis of mutant mt tRNAs isolated from cells derived from patients with mitochondrial diseases revealed the lack of a post-transcriptional taurine-modification at the anticodon wobble uridine in two mt tRNAs bearing typical pathogenic mutations: mt tRNA(Leu(UUR)) with...
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