scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1003664613 |
P356 | DOI | 10.1038/15513 |
P3181 | OpenCitations bibliographic resource ID | 1474515 |
P698 | PubMed publication ID | 10545952 |
P5875 | ResearchGate publication ID | 12754771 |
P50 | author | Ichizo Nishino | Q37828689 |
Michio Hirano | Q89906306 | ||
P2093 | author name string | S Krishna | |
D M Glerum | |||
D C De Vivo | |||
C M Sue | |||
S DiMauro | |||
S Shanske | |||
E A Schon | |||
W Walker | |||
E Bonilla | |||
P Kaplan | |||
M M Davidson | |||
K Tanji | |||
R Lebel | |||
G Lyon | |||
J Selby | |||
E Scalais | |||
J E Sadlock | |||
L C Papadopoulou | |||
R V Coster | |||
P2860 | cites work | SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome | Q22008476 |
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain | Q22008622 | ||
Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae | Q24310678 | ||
Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant | Q24319047 | ||
Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment | Q24323240 | ||
SCO1, a yeast nuclear gene essential for accumulation of mitochondrial cytochrome c oxidase subunit II. | Q27932499 | ||
Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase | Q27934782 | ||
Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane | Q27939251 | ||
Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization | Q28142444 | ||
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy | Q33681493 | ||
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency | Q34388122 | ||
Accumulation of the cytochrome c oxidase subunits I and II in yeast requires a mitochondrial membrane-associated protein, encoded by the nuclear SCO1 gene | Q34450341 | ||
Mitochondrial DNA mutations and pathogenesis | Q41547371 | ||
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome | Q44595873 | ||
Steady-state transcript levels of cytochrome c oxidase genes during human myogenesis indicate subunit switching of subunit VIa and co-expression of subunit VIIa isoforms | Q44771353 | ||
Cytochrome c oxidase: structure and spectroscopy | Q47910949 | ||
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome | Q48054632 | ||
Cytochrome c oxidase deficiency in Leigh syndrome | Q48203324 | ||
The identification of 18 nuclear genes required for the expression of the yeast mitochondrial gene encoding cytochrome c oxidase subunit 1 | Q67487792 | ||
Yeast SCO1 protein is required for a post-translational step in the accumulation of mitochondrial cytochrome c oxidase subunits I and II | Q68486954 | ||
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency | Q70167731 | ||
SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae | Q71246164 | ||
Cytochemistry and immunocytochemistry of mitochondria in tissue sections | Q71890063 | ||
Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency | Q72863474 | ||
Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase | Q74609082 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 333-7 | |
P577 | publication date | 1999-11-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene | |
P478 | volume | 23 |
Q92543630 | A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia |
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Q33622307 | A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system. |
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Q53075411 | A history of mitochondrial diseases. |
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Q34768367 | A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy |
Q47074411 | A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. |
Q37774749 | A neurological perspective on mitochondrial disease. |
Q28213285 | A role for mitochondrial enzymes in inherited neoplasia and beyond |
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Q35019411 | A targetable fluorescent sensor reveals that copper-deficient SCO1 and SCO2 patient cells prioritize mitochondrial copper homeostasis. |
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Q73943201 | Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes |
Q28589741 | Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2 |
Q41859118 | Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases |
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Q34535761 | Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process |
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Q34209733 | Copper modulates the degradation of copper chaperone for Cu,Zn superoxide dismutase by the 26 S proteosome. |
Q24534079 | Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations |
Q24337613 | Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency |
Q38942904 | Copper transporters and chaperones: Their function on angiogenesis and cellular signalling |
Q27936222 | Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein |
Q28189586 | Cytochrome c oxidase deficiency |
Q35038648 | Cytochrome c oxidase deficiency |
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Q24299371 | Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1 |
Q40816638 | Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles |
Q34594190 | Cytochrome oxidase in health and disease. |
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Q30331712 | Defects in mitochondrial respiratory complexes III and IV, and human pathologies. |
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Q36267201 | Dietary copper supplementation reverses hypertrophic cardiomyopathy induced by chronic pressure overload in mice |
Q51682565 | Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models. |
Q37279228 | Doxorubicin inactivates myocardial cytochrome c oxidase in rats: cardioprotection by Mito-Q |
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Q42556101 | Effect of p53 on mitochondrial morphology, import, and assembly in skeletal muscle. |
Q90426371 | Elesclomol restores mitochondrial function in genetic models of copper deficiency |
Q36238864 | Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development |
Q47721349 | Evaluation of SCO1 deletion on Saccharomyces cerevisiae metabolism through a proteomic approach. |
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Q34203277 | Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy |
Q24301657 | Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy |
Q40259007 | Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia |
Q37649092 | Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency |
Q57245327 | Fatal neonatal mitochondrial cytopathy with disseminated fatty nodules in the liver |
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Q24617140 | GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L |
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Q48312308 | Genomic structure of mouse copper chaperone, COX17. |
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Q35819361 | Heart mitochondria signaling pathways: appraisal of an emerging field |
Q36812709 | Heavy metal ions in normal physiology, toxic stress, and cytoprotection. |
Q34631359 | Hepatic transport systems |
Q28661465 | Historical perspective on mitochondrial medicine |
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Q33582770 | Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase |
Q34972244 | Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. |
Q28266498 | Human Sco1 and Sco2 function as copper-binding proteins |
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Q34067750 | Human cytochrome oxidase deficiency |
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Q38711145 | Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module |
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Q48199735 | Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes |
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Q36727229 | Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein |
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Q28192185 | Laboratory approach to mitochondrial diseases |
Q24533500 | Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency |
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Q28587981 | Mammalian copper chaperone Cox17p has an essential role in activation of cytochrome C oxidase and embryonic development |
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