Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.
about
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.PGC-1alpha/beta upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutationsMitochondrial cytochrome c oxidase deficiencyA missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathyCytochrome c oxidase deficiencyThe adaptive evolution of the mammalian mitochondrial genomeClinical mitochondrial genetics.NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.Megakaryocytic differentiation of K562 cells induced by PMA reduced the activity of respiratory chain complex IVProteomic and Mitochondrial Genomic Analyses of Pediatric Brain Tumors.Cytochrome c oxidase dysfunction in oxidative stress.Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.The genetics and pathology of mitochondrial disease.Genomics and genetics in the biology of adaptation to exercise.Polymorphisms of the murine mitochondrial ND4, CYTB and COX3 genes impact hematopoiesis during aging.Mitochondrial contribution to Parkinson's disease pathogenesis.Mitochondrial pathology in Parkinson's disease.Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations.In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I.Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assemblyBayesian network and mechanistic hierarchical structure modeling of increased likelihood of developing intractable childhood epilepsy from the combined effect of mtDNA variants, oxidative damage, and copy number.Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models.
P2860
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P2860
Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@ast
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@en
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@nl
type
label
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@ast
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@en
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@nl
prefLabel
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@ast
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@en
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA.
@nl
P2093
P2860
P356
P1476
Cytochrome c oxidase deficienc ...... point mutation in human mtDNA
@en
P2093
A H Schapira
J A Morgan-Hughes
M J Cooper
P2860
P356
10.1086/301910
P407
P577
1998-07-01T00:00:00Z