Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
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Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyA molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Mitochondrial cytochrome c oxidase deficiencyMitochondrial geneticsMitochondrial structure and function are disrupted by standard isolation methodsAnalysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor familyCoa1 links the Mss51 post-translational function to Cox1 cofactor insertion in cytochrome c oxidase assembly.Coa2 is an assembly factor for yeast cytochrome c oxidase biogenesis that facilitates the maturation of Cox1.Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathyA comprehensive genetic study on left atrium size in Caribbean Hispanics identifies potential candidate genes in 17p10Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.Cytochrome c oxidase is required for the assembly/stability of respiratory complex I in mouse fibroblastsHistorical perspective on mitochondrial medicineA defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.Formation of the redox cofactor centers during Cox1 maturation in yeast cytochrome oxidase.Redox susceptibility of SOD1 mutants is associated with the differential response to CCS over-expression in vivo.Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.The role of mitochondrial DNA copy number in mammalian fertility.Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.Structure, function, and assembly of heme centers in mitochondrial respiratory complexes.The heme a synthase Cox15 associates with cytochrome c oxidase assembly intermediates during Cox1 maturationThe genetics of Leigh syndrome and its implications for clinical practice and risk managementDefects in cytochrome oxidase assembly in humans: lessons from yeast.A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathyRegulation of the heme A biosynthetic pathway: differential regulation of heme A synthase and heme O synthase in Saccharomyces cerevisiae.A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Renal mitochondrial cytopathies.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.miR-210: fine-tuning the hypoxic response.Oligomerization of heme o synthase in cytochrome oxidase biogenesis is mediated by cytochrome oxidase assembly factor Coa2.Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.Cytochrome c Oxidase Biogenesis and Metallochaperone Interactions: Steps in the Assembly Pathway of a Bacterial Complex.LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Mitochondrial iron chelation ameliorates cigarette smoke-induced bronchitis and emphysema in mice.COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
P2860
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P2860
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutations in COX10 result in a ...... d with isolated COX deficiency
@ast
Mutations in COX10 result in a ...... d with isolated COX deficiency
@en
Mutations in COX10 result in a ...... d with isolated COX deficiency
@en-gb
Mutations in COX10 result in a ...... d with isolated COX deficiency
@nl
type
label
Mutations in COX10 result in a ...... d with isolated COX deficiency
@ast
Mutations in COX10 result in a ...... d with isolated COX deficiency
@en
Mutations in COX10 result in a ...... d with isolated COX deficiency
@en-gb
Mutations in COX10 result in a ...... d with isolated COX deficiency
@nl
prefLabel
Mutations in COX10 result in a ...... d with isolated COX deficiency
@ast
Mutations in COX10 result in a ...... d with isolated COX deficiency
@en
Mutations in COX10 result in a ...... d with isolated COX deficiency
@en-gb
Mutations in COX10 result in a ...... d with isolated COX deficiency
@nl
P2093
P921
P356
P1476
Mutations in COX10 result in a ...... d with isolated COX deficiency
@en
P2093
Cary O Harding
Eric A Shoubridge
Guy-Hellen Guercin
Jeffrey N Agar
Michaela Jaksch
Nancy G Kennaway
Scot C Leary
P304
P356
10.1093/HMG/DDG284
P407
P577
2003-10-15T00:00:00Z