Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1 (Q24299371)

respiratory chain complex IV assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Pierre Rustin

3

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Jan-Willem Taanman

4

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author name string

Siôn L Williams

1

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Isabelle Valnot

Journal of Biological Chemistry

2

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language of work or name

English

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publication date

27 February 2004

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published in

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volume

279

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issue

9

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page(s)

7462-9

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cites work

The cytochrome oxidase superfamily of redox-driven proton pumps

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Cytochrome c oxidase: structure and spectroscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Structural features of cytochrome oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Human cytochrome c oxidase: structure, function, and deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Mammalian subunit IV isoforms of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

A third isoform of cytochrome c oxidase subunit VIII is present in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Cytochrome c oxidase of mammals contains a testes-specific isoform of subunit VIb--the counterpart to testes-specific cytochrome c?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Cytochrome oxidase in health and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Assembly of cytochrome c oxidase within the mitochondrion

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

PrrC from Rhodobacter sphaeroides, a homologue of eukaryotic Sco proteins, is a copper-binding protein and may have a thiol-disulfide oxidoreductase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Purification, Characterization, and Localization of Yeast Cox17p, a Mitochondrial Copper Shuttle

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Yeast Sco1, a protein essential for cytochrome c oxidase function is a Cu(I)-binding protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Cox11p is required for stable formation of the Cu(B) and magnesium centers of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Yeast Cox11, a protein essential for cytochrome c oxidase assembly, is a Cu(I)-binding protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

COX15 Codes for a Mitochondrial Protein Essential for the Assembly of Yeast Cytochrome Oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Tissue distribution of cytochrome c oxidase isoforms in mammals. Characterization with monoclonal and polyclonal antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Electrophoretic separation of multiprotein complexes from blood platelets and cell lines: technique for the analysis of diseases with defects in oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Quantification of oxidative phosphorylation enzymes after blue native electrophoresis and two‐dimensional resolution: Normal complex I protein amounts in Parkinson's disease conflict with reduced catalytic activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Membrane protein degradation by AAA proteases in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Redox-Coupled Crystal Structural Changes in Bovine Heart Cytochrome c Oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Evidence for the sequential assembly of cytochrome oxidase subunits in rat liver mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Assembly of cytochrome-c oxidase in cultured human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

Yeast SCO1 protein is required for a post-translational step in the accumulation of mitochondrial cytochrome c oxidase subunits I and II

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

Mitochondrial copper metabolism in yeast: interaction between Sco1p and Cox2p

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mt

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

Detergent-solubilized bovine cytochrome c oxidase: dimerization depends on the amphiphilic environment

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

Characterization of YpmQ, an accessory protein required for the expression of cytochrome c oxidase in Bacillus subtilis

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021

Molecular mechanisms in mitochondrial DNA depletion syndrome

1 reference

https://api.crossref.org/works/10.1074/JBC.M309232200

7 January 2021