Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy (Q28117028)

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21 February 2020

title

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25339201%20AND%20SRC:MED&resulttype=core&format=json

Synthesis of cytochrome C oxidase 1

21 February 2020

main subject

1 reference

Cytochrome c oxidase assembly factor 6

GOA release 2020-03-11

1 reference

hypertrophic cardiomyopathy

GOA release 2020-03-11

1 reference

10

1 reference

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21 February 2020

Lambert P van den Heuvel

5

object named as

Lambert P van den Heuvel

2 references

4 January 2017

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21 February 2020

8

Jan A Smeitink

1 reference

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21 February 2020

9

Leo G J Nijtmans

1 reference

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21 February 2020

Mariël A M van den Brand

2

object named as

Mariel A M van den Brand

2 references

4 January 2017

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21 February 2020

6

Felix Distelmaier

2 references

4 January 2017

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21 February 2020

author name string

Fabian Baertling

1

2 references

4 January 2017

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21 February 2020

Aisha Al-Shamsi

4

2 references

4 January 2017

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21 February 2020

Ertan Mayatepek

7

2 references

4 January 2017

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21 February 2020

Jozef L Hertecant

3

1 reference

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21 February 2020

publication date

18 November 2014

1 reference

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21 February 2020

2 references

4 January 2017

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21 February 2020

volume

36

2 references

4 January 2017

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21 February 2020

page(s)

34-38

1 reference

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21 February 2020

issue

1

2 references

4 January 2017

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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 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

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/10.1002%2FHUMU.22715

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Assembly of cytochrome-c oxidase in cultured human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

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.22715

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Intermembrane space proteome of yeast mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

SURF1 deficiency: a multi-centre natural history study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22715

21 January 2018

Identifiers

DOI

10.1002/HUMU.22715

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25339201%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

2 references

4 January 2017