The Diabetes-associated 3243 Mutation in the Mitochondrial tRNALeu(UUR) Gene Causes Severe Mitochondrial Dysfunction without a Strong Decrease in Protein Synthesis Rate
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چکیده
منابع مشابه
Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction
The evolutionary divergence of mitochondrial ribosomes from their bacterial and cytoplasmic ancestors has resulted in reduced RNA content and the acquisition of mitochondria-specific proteins. The mitochondrial ribosomal protein of the small subunit 34 (MRPS34) is a mitochondria-specific ribosomal protein found only in chordates, whose function we investigated in mice carrying a homozygous muta...
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The gene encoding mt-tRNA, MT-TL1, is a hotspot for pathogenic mtDNA mutations. Amongst the first to be described was the 3302A.G transition which resulted in a substantial accumulation in patient muscle of RNA19, an unprocessed RNA intermediate including mt-16S rRNA, mt-tRNA and MTND1. We have now been able to further assess the molecular aetiology associated with 3302A.G in transmitochondrial...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1999
ISSN: 0021-9258
DOI: 10.1074/jbc.274.42.29744