Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. (Q43920593)

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5 March 2020

title

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis (English)

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5 March 2020

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Scot C Leary

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5 March 2020

Florin Sasarman

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5 March 2020

Woranontee Weraarpachai

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5 March 2020

Min Pan

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5 March 2020

Garry K Brown

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5 March 2020

Ruth Brown

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Jacek Majewski

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5 March 2020

Kevin C H Ha

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5 March 2020

Shamima Rahman

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5 March 2020

Eric A Shoubridge

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publication date

12 August 2013

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5 March 2020

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volume

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issue

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page(s)

1366-1370

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Human Sco1 functional studies and pathological implications of the P174L mutant

5 March 2020

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.22385

Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22385

Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

The many clinical faces of cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

Human Sco1 and Sco2 function as copper-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

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/10.1002%2FHUMU.22385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

Loss of function of Sco1 and its interaction with cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22385

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/HUMU.22385

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5 March 2020

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