A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
about
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteinsMitochondria and dystonia: the movement disorder connection?A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex IGenetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaMitochondrial DNA mutations in human diseaseNucleoside modifications in the regulation of gene expression: focus on tRNAWhen should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literatureHuman mitochondrial DNA replicationMitochondrial geneticsReactive oxygen species, apoptosis, and mitochondrial dysfunction in hearing loss.Mitochondrial DNA disease-molecular insights and potential routes to a cureHuman mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAsMitonuclear interactions: evolutionary consequences over multiple biological scalesThe conserved translocase Tim17 prevents mitochondrial DNA lossMitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.tRNA biology in mitochondriaA peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulationModification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesIsolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutationMitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current conceptsGenetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutationWobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial diseaseMitochondrial dysfunction and increased sensitivity to excitotoxicity in mice deficient in DNA mismatch repairEfficient repopulation of genetically derived rho zero cells with exogenous mitochondriaGenetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum DisorderMitochondrial DNA disease and developmental implications for reproductive strategiesHistorical perspective on mitochondrial medicineA mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicineStem cell-based models and therapies for neurodegenerative diseasesSimultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.At the speed of sound: gene discovery in the auditory systemIncreased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS).A guide to diagnosis and treatment of Leigh syndrome.Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs.Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
P2860
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P2860
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
1990年學術文章
@zh-hant
name
A mutation in the tRNA
@nl
A mutation in the tRNA(Leu)(UU ...... chondrial encephalomyopathies.
@en
type
label
A mutation in the tRNA
@nl
A mutation in the tRNA(Leu)(UU ...... chondrial encephalomyopathies.
@en
prefLabel
A mutation in the tRNA
@nl
A mutation in the tRNA(Leu)(UU ...... chondrial encephalomyopathies.
@en
P2093
P356
P1433
P1476
A mutation in the tRNA(Leu)(UU ...... chondrial encephalomyopathies.
@en
P2093
P2888
P304
P356
10.1038/348651A0
P407
P577
1990-12-01T00:00:00Z
P6179
1027941299