The Diabetes-associated 3243 Mutation in the Mitochondrial tRNALeu(UUR) Gene Causes Severe Mitochondrial Dysfunction without a Strong Decrease in Protein Synthesis Rate
Open Access
- 1 October 1999
- journal article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 274 (42) , 29744-29748
- https://doi.org/10.1074/jbc.274.42.29744
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Mitochondrial genetics and human diseaseBioEssays, 1996
- MOLECULAR GENETIC ASPECTS OF HUMAN MITOCHONDRIAL DISORDERSAnnual Review of Genetics, 1995
- MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation terminationNature Genetics, 1995
- A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNANew England Journal of Medicine, 1994
- Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafnessNature Genetics, 1992
- DISEASES OF THE MITOCHONDRIAL DNAAnnual Review of Biochemistry, 1992
- MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.Proceedings of the National Academy of Sciences, 1992
- Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.Molecular and Cellular Biology, 1992
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 1990
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990