In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.
about
The human lysyl-tRNA synthetase gene encodes both the cytoplasmic and mitochondrial enzymes by means of an unusual alternative splicing of the primary transcriptMitochondrial tRNA mutations and diseaseCytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathiesHistorical perspective on mitochondrial medicineMitochondria in cybrids containing mtDNA from persons with mitochondriopathies.Nuclear pseudogenes of mitochondrial DNA as a variable part of the human genome.A functionally dominant mitochondrial DNA mutation.Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants.The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.Mitochondrial DNA: impacting central and peripheral nervous systems.Disorders of mitochondrial protein synthesis.Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).Correcting human mitochondrial mutations with targeted RNA import.Role and treatment of mitochondrial DNA-related mitochondrial dysfunction in sporadic neurodegenerative diseases.Does mitochondrial DNA play a role in Parkinson's disease? A review of cybrid and other supportive evidence.The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cellsHuman mitochondrial transfer RNAs: role of pathogenic mutation in disease.A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.Mitochondria, Cybrids, Aging, and Alzheimer's Disease.A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).Correction of translational defects in patient-derived mutant mitochondria by complex-mediated import of a cytoplasmic tRNA.Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.Mitochondrial encephalomyopathies: what next?Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.BCL-2 improves oxidative phosphorylation and modulates adenine nucleotide translocation in mitochondria of cells harboring mutant mtDNA.Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function.G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Mitochondrial DNA and RNA processing in MELAS.A history of mitochondrial diseases.
P2860
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P2860
In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
In vitro analysis of mutations ...... es produce similar phenotypes.
@ast
In vitro analysis of mutations ...... es produce similar phenotypes.
@en
type
label
In vitro analysis of mutations ...... es produce similar phenotypes.
@ast
In vitro analysis of mutations ...... es produce similar phenotypes.
@en
prefLabel
In vitro analysis of mutations ...... es produce similar phenotypes.
@ast
In vitro analysis of mutations ...... es produce similar phenotypes.
@en
P2093
P2860
P356
P1476
In vitro analysis of mutations ...... pes produce similar phenotypes
@en
P2093
P2860
P304
P356
10.1128/MCB.15.5.2872
P407
P50
P577
1995-05-01T00:00:00Z