(Q73089677)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10524227%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency (English)

1 reference

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1 November 2019

7

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1 November 2019

author name string

J C von Kleist-Retzow

1

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1 November 2019

E Vial

2

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1 November 2019

K Chantrel-Groussard

3

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1 November 2019

A Rötig

4

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1 November 2019

A Munnich

5

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1 November 2019

P Rustin

6

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1 November 2019

language of work or name

English

0 references

publication date

1 September 1999

1 reference

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Biochimica et Biophysica Acta

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10524227%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

1455

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1 November 2019

issue

1

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1 November 2019

page(s)

35-44

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The mitochondrial electron transport and oxidative phosphorylation system

1 November 2019

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

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The cytochrome oxidase superfamily of redox-driven proton pumps

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

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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

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

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Isolation and characterization of mitochondria from human B lymphoblastoid cell lines

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Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes

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7 January 2021

A kinetic study of the effects of phosphate and organic phosphates on the activity of phosphoenolpyruvate carboxylase from Crassula argentea

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7 January 2021

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

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7 January 2021

Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase

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Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells

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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

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7 January 2021

Molecular mechanisms in mitochondrial DNA depletion syndrome

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7 January 2021

Characterization of cytochrome-c oxidase mutants in human fibroblasts

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7 January 2021

Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)

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7 January 2021

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

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7 January 2021

Modified structure and kinetics of cytochrome-c oxidase in fibroblasts from patients with Leigh syndrome

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7 January 2021

Biochemical analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome

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7 January 2021

Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

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7 January 2021

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

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7 January 2021

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

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7 January 2021

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

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7 January 2021

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7 January 2021

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

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7 January 2021

The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Cloning and characterization of PET100, a gene required for the assembly of yeast cytochrome c oxidase

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7 January 2021

Assembly of cytochrome-c oxidase in cultured human cells

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7 January 2021

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy

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7 January 2021

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

1 reference

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7 January 2021

10.1016/S0925-4439(99)00050-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10524227%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference