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.
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesMitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcriptionMitochondrial DNA mutations in human diseaseSurvey of human mitochondrial diseases using new genomic/proteomic toolsCytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathiesMitochondrial disorders: challenges in diagnosis & treatmentHuman mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAsThe conserved translocase Tim17 prevents mitochondrial DNA lossModification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesGenetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutationMultiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease.Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.Effects on mitochondrial transcription of manipulating mTERF protein levels in cultured human HEK293 cells.Rare creation of recombinant mtDNA haplotypes in mammalian tissues.Reverse genetic studies of mitochondrial DNA-based diseases using a mouse model.Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations.Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?A compendium of human mitochondrial gene expression machinery with links to disease.Redundancy, antiredundancy, and the robustness of genomes.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.Structural probing of a pathogenic tRNA dimer.Cell and animal models of mtDNA biology: progress and prospects.Mitochondrial dynamics and inheritance during cell division, development and disease.Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.Mitochondrial DNA: impacting central and peripheral nervous systems.Electrophile and oxidant damage of mitochondrial DNA leading to rapid evolution of homoplasmic mutations.Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.Mitochondrial threshold effects.Organ-specific shifts in mtDNA heteroplasmy following systemic delivery of a mitochondria-targeted restriction endonuclease.Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytesCorrection of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.Mitochondrial DNA sequence variation in human evolution and disease.Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.
P2860
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P2860
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.
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
MELAS mutation in mtDNA bindin ...... downstream mature transcripts.
@en
type
label
MELAS mutation in mtDNA bindin ...... downstream mature transcripts.
@en
prefLabel
MELAS mutation in mtDNA bindin ...... downstream mature transcripts.
@en
P2093
P2860
P356
P1476
MELAS mutation in mtDNA bindin ...... downstream mature transcripts.
@en
P2093
A Martinuzzi
C Angelini
P2860
P304
P356
10.1073/PNAS.89.10.4221
P407
P577
1992-05-01T00:00:00Z