A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy (Q28118731)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486321%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486321%20AND%20SRC:MED&resulttype=core&format=json

Cytochrome c oxidase subunit II

31 October 2019

main subject

1 reference

cytochrome-c oxidase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Jan Taanman

2

1 reference

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31 October 2019

Isabelle Nelson

4

1 reference

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31 October 2019

Brigitte Meunier

6

1 reference

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31 October 2019

12

A H Schapira

1 reference

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31 October 2019

3

J M Cooper

1 reference

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31 October 2019

7

M G Hanna

1 reference

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31 October 2019

author name string

S Rahman

1

1 reference

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31 October 2019

I Hargreaves

5

1 reference

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31 October 2019

J J García

8

1 reference

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31 October 2019

R A Capaldi

9

1 reference

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31 October 2019

B D Lake

10

1 reference

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31 October 2019

J V Leonard

11

1 reference

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31 October 2019

language of work or name

English

0 references

publication date

1 October 1999

2 references

4 January 2017

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American Journal of Human Genetics

31 October 2019

published in

2 references

4 January 2017

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31 October 2019

volume

65

2 references

4 January 2017

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31 October 2019

page(s)

1030-1039

1 reference

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31 October 2019

issue

4

2 references

4 January 2017

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

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Sequence and organization of the human mitochondrial genome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Assembly of cytochrome-c oxidase in cultured human cells

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Structure and function of cytochrome c oxidase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Quantitation and characterization of cytochrome c oxidase in complex systems.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Reversal of a mitochondrial DNA defect in human skeletal muscle.

2 June 2018

1 reference

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A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

MELAS: clinical features, biochemistry, and molecular genetics

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

A quantitative technique for growing human adult skeletal muscle in culture starting from mononucleated cells

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288235

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

27 November 2018

1 reference

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Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing

27 November 2018

1 reference

12 December 2020

Second-site reversion analysis is not a reliable method to determine distances in membrane proteins: an assessment using mutations in yeast cytochrome c oxidase subunits I and II

1 reference

12 December 2020

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

12 December 2020

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc

1 reference

12 December 2020

Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

1 reference

12 December 2020

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

12 December 2020

Iron induced oxidative stress and mitochondrial dysfunction: relevance to Parkinson's disease

1 reference

12 December 2020

Regulation of cytochrome c oxidase by interaction of ATP at two binding sites, one on subunit VIa

1 reference

12 December 2020

Molecular mechanisms in mitochondrial DNA depletion syndrome

1 reference

12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

12 December 2020

Identifiers

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4 January 2017

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31 October 2019

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4 January 2017