Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
about
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patternsCytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial diseaseExome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyMutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyCopper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyMitochondrial disulfide relay mediates translocation of p53 and partitions its subcellular activityCOA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2Mutations in SCO2 are associated with autosomal-dominant high-grade myopiaLarge-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyCopper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutationsMutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1LMitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysisCABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresMitochondrial cytochrome c oxidase deficiencyMitochondrial disorders: challenges in diagnosis & treatmentShy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast.Inaccurately assembled cytochrome c oxidase can lead to oxidative stress-induced growth arrest.Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae.Yeast Sco1, a protein essential for cytochrome c oxidase function is a Cu(I)-binding protein.Respiratory chain complex I deficiencyCytochrome c oxidase deficiencyMutation screening in patients with isolated cytochrome c oxidase deficiencySequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Human Sco1 and Sco2 function as copper-binding proteinsA stabilizing factor for mitochondrial respiratory supercomplex assembly regulates energy metabolism in muscleThe expression of Cox17p in rodent tissues and cellsMammalian copper chaperone Cox17p has an essential role in activation of cytochrome C oxidase and embryonic developmentAnalysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyHistorical perspective on mitochondrial medicineProtective effect of Dl-3n-butylphthalide on learning and memory impairment induced by chronic intermittent hypoxia-hypercapnia exposureMitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease.Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
P2860
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P2860
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@ast
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@en
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@en-gb
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@nl
type
label
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@ast
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@en
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@en-gb
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@nl
prefLabel
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@ast
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@en
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@en-gb
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@nl
P2093
P3181
P356
P1433
P1476
Fatal infantile cardioencephal ...... s in SCO2, a COX assembly gene
@en
P2093
D C De Vivo
D M Glerum
J E Sadlock
P2888
P3181
P356
10.1038/15513
P407
P577
1999-11-01T00:00:00Z
P5875
P6179
1003664613