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

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

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http://www.wikidata.org/entity/Q35195556

Q35195556

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PGC-1alpha/beta upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations External contamination in single cell mtDNA analysis.The in-depth evaluation of suspected mitochondrial disease Photothermal imaging of skeletal muscle mitochondria.Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?A functionally dominant mitochondrial DNA mutation.Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs.Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.Neutral mitochondrial heteroplasmy and the influence of aging.Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.Mitochondrial threshold effects.Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.Is 8860 variation a rare polymorphism or associated as a secondary effect in HCM disease?Real-Time PCR Quantification of Heteroplasmy in a Mouse Model with Mitochondrial DNA of C57BL/6 and NZB/BINJ Strains The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.Visualization of mitochondrial respiratory function using cytochrome c oxidase/succinate dehydrogenase (COX/SDH) double-labeling histochemistry.Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.Manipulation of mtDNA heteroplasmy in all striated muscles of newborn mice by AAV9-mediated delivery of a mitochondria-targeted restriction endonuclease.MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity Mitochondrial disease: mtDNA and protein segregation mysteries in iPSCs Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease Intra- and inter-molecular recombination of mitochondrial DNA after in vivo induction of multiple double-strand breaks.A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.The genetics and pathology of mitochondrial disease.MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria.Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.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).Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation.Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis.The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

P2860

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P2860

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

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http://www.wikidata.org/entity/Q35195556

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1992 nî lūn-bûn

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1992 թուականի Մայիսին հրատարակուած գիտական յօդուած

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1992 թվականի մայիսին հրատարակված գիտական հոդված

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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