Article
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
Proceedings of the National Academy of Sciences of the United States of America - 17 May 2005
Kirino Yohei, Goto Yu-Ichi, Campos Yolanda, Arenas Joaquin, Suzuki Tsutomu
Abstract excerpt
Mutations in mtDNA are responsible for a variety of mitochondrial diseases, where the mitochondrial tRNA(Leu(UUR)) gene has especially hot spots for pathogenic mutations. Clinical features often depend on the tRNA species and/or positions of the mutations; however, molecular pathogenesis elucidating the relation between the location of the mutations and their leading phenotype are not fully understood. We report...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.