Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
about
Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidaseMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionMitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins.Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsWobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial diseaseGimap3 regulates tissue-specific mitochondrial DNA segregationNOA1 is an essential GTPase required for mitochondrial protein synthesisGenetics and epilepsy.Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome).Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?Mitochondrial DNA alterations and reduced mitochondrial function in agingRapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation.The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.Electrophile and oxidant damage of mitochondrial DNA leading to rapid evolution of homoplasmic mutations.Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh SyndromeMitochondrial threshold effects.Human stem cell aging: do mitochondrial DNA mutations have a causal role?Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changesQuantitative changes in Gimap3 and Gimap5 expression modify mitochondrial DNA segregation in mice.Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.Is 8860 variation a rare polymorphism or associated as a secondary effect in HCM 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.Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translationQuality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness.Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles.Mitochondrial Factors and VACTERL Association-Related Congenital MalformationsSCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.The mitochondrial brain: From mitochondrial genome to neurodegenerationMutational load of the mitochondrial genome predicts pathological features and biochemical recurrence in prostate cancer.
P2860
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P2860
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
description
1992 nî lūn-bûn
@nan
1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
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
name
Distribution and threshold exp ...... and ragged-red fibers (MERRF).
@ast
Distribution and threshold exp ...... and ragged-red fibers (MERRF).
@en
type
label
Distribution and threshold exp ...... and ragged-red fibers (MERRF).
@ast
Distribution and threshold exp ...... and ragged-red fibers (MERRF).
@en
prefLabel
Distribution and threshold exp ...... and ragged-red fibers (MERRF).
@ast
Distribution and threshold exp ...... and ragged-red fibers (MERRF).
@en
P2093
P2860
P1476
Distribution and threshold exp ...... and ragged-red fibers (MERRF).
@en
P2093
Shoubridge EA
P2860
P304
P407
P577
1992-12-01T00:00:00Z