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.
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesTrmt61B is a methyltransferase responsible for 1-methyladenosine at position 58 of human mitochondrial tRNAsMitochondrial tRNA mutations and diseaseCytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathiesThe conserved translocase Tim17 prevents mitochondrial DNA lossA microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuriaModification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current conceptsELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyGenetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutationHuman mitochondrial tRNA processingHistorical perspective on mitochondrial medicineMitochondria in cybrids containing mtDNA from persons with mitochondriopathies.Roles for imaging in understanding the pathophysiology, clinical evaluation, and management of patients with mitochondrial disease.Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease.MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.Reverse genetic studies of mitochondrial DNA-based diseases using a mouse model.Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetesTwo novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantationDifferent cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Structural probing of a pathogenic tRNA dimer.Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.Cell and animal models of mtDNA biology: progress and prospects.Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.Complete repopulation of mouse mitochondrial DNA-less cells with rat mitochondrial DNA restores mitochondrial translation but not mitochondrial respiratory function.Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expressionMitochondrial DNA: impacting central and peripheral nervous systems.The use of mitochondria-targeted endonucleases to manipulate mtDNAPathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitroFine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.A new mtDNA mutation showing accumulation with time and restriction to skeletal muscleThe fate of human sperm-derived mtDNA in somatic cells.Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes
P2860
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P2860
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.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Defects in mitochondrial prote ...... osis, and strokelike episodes.
@ast
Defects in mitochondrial prote ...... osis, and strokelike episodes.
@en
type
label
Defects in mitochondrial prote ...... osis, and strokelike episodes.
@ast
Defects in mitochondrial prote ...... osis, and strokelike episodes.
@en
prefLabel
Defects in mitochondrial prote ...... osis, and strokelike episodes.
@ast
Defects in mitochondrial prote ...... osis, and strokelike episodes.
@en
P2093
P2860
P356
P1476
Defects in mitochondrial prote ...... dosis, and strokelike episodes
@en
P2093
P2860
P304
P356
10.1128/MCB.12.2.480
P407
P50
P577
1992-02-01T00:00:00Z