(Q24301791)

mitochondrial cytochrome c oxidase assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

6

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author name string

Woranontee Weraarpachai

1

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Florin Sasarman

2

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Tamiko Nishimura

3

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Hana Antonicka

4

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Karine Auré

5

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Anne Lombès

7

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Eric A Shoubridge

American Journal of Human Genetics

8

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language of work or name

English

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publication date

13 January 2012

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published in

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volume

90

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issue

1

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page(s)

142-51

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cites work

A mitochondrial protein compendium elucidates complex I disease biology

1 reference

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Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

19 March 2017

1 reference

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Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257963

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

19 March 2017

1 reference

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The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

19 March 2017

1 reference

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Cytochrome c oxidase deficiency

19 March 2017

1 reference

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

19 March 2017

1 reference

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Assembly of cytochrome-c oxidase in cultured human cells

19 March 2017

1 reference

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Inventory control: cytochrome c oxidase assembly regulates mitochondrial translation

19 March 2017

1 reference

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Small single transmembrane domain (STMD) proteins organize the hydrophobic subunits of large membrane protein complexes.

27 September 2017

1 reference

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LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

27 September 2017

1 reference

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A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis

27 September 2017

1 reference

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Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

27 September 2017

1 reference

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Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene

27 September 2017

1 reference

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Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

27 September 2017

1 reference

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Chaperone properties of mammalian mitochondrial translation elongation factor Tu.

27 September 2017

1 reference

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Human cytochrome oxidase deficiency

27 September 2017

1 reference

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Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

27 September 2017

1 reference

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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257963

Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency

29 November 2018

1 reference

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Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies

29 November 2018

1 reference

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10.1016/J.AJHG.2011.11.027

29 November 2018

Identifiers

DOI

1 reference

1 reference

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PubMed publication ID

22243966

1 reference