Article
Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases.
FEBS letters - 23 May 2005
Yasukawa Takehiro, Kirino Yohei, Ishii Norie, Holt Ian J, Jacobs Howard T, Makifuchi Takao, Fukuhara Nobuyoshi, Ohta Shigeo, Suzuki Tsutomu, Watanabe Kimitsuna
Abstract excerpt
Point mutations in mitochondrial (mt) tRNA genes are associated with a variety of human mitochondrial diseases. We have shown previously that mt tRNA(Leu(UUR)) with a MELAS A3243G mutation and mt tRNA(Lys) with a MERRF A8344G mutation derived from HeLa background cybrid cells are deficient in normal taurine-containing modifications [taum(5)(s(2))U; 5-taurinomethyl-(2-thio)uridine] at the anticodon wobble position...
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