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Article

The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis.

Biochimica et biophysica acta - 17 Jul 1992

Schon E A, Koga Y, Davidson M, Moraes C T, King M P

Abstract excerpt

The A----G transition at nucleotide 3243 of the mitochondrial tRNA(Leu)(UUR)) gene has been associated with MELAS, a maternally-inherited mitochondrial disorder. We recently transferred mitochondria harboring this mtDNA mutation into a human cell line devoid of endogenous mtDNA (rho degrees cells), and showed: (1) decreased rate of synthesis and of steady-state levels of mitochondrial translational products, (2)...

Topics

Brain Diseases, Metabolic
Cell Line
DNA, Mitochondrial
Humans
Lipid Metabolism, Inborn Errors
Mitochondria
Models, Genetic
Muscular Diseases
Mutation
RNA
RNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA, Transfer, Leu

Source

Identifiers

PMID: 1378759

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1378759-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis.PMID 1378759Read ↗

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.Semantic proximity Read ↗

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.Semantic proximity Read ↗

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.Semantic proximity Read ↗

The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.Semantic proximity Read ↗

Pathophysiology of the MELAS 3243 transition mutation.Semantic proximity Read ↗

The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.Semantic proximity Read ↗

A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR).Semantic proximity Read ↗

The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate.Semantic proximity Read ↗

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).Semantic proximity Read ↗

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.Semantic proximity Read ↗

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