(Q34088669)

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528392%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528392%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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Marina S. Gorbatyuk

4

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10 November 2019

6

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10 November 2019

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10 November 2019

author name string

P de Lonlay

1

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10 November 2019

I Valnot

2

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10 November 2019

A Barrientos

3

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10 November 2019

A Tzagoloff

5

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10 November 2019

E Benayoun

7

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10 November 2019

D Chrétien

8

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10 November 2019

N Kadhom

9

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10 November 2019

A Lombès

10

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10 November 2019

H O de Baulny

11

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10 November 2019

P Niaudet

12

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10 November 2019

P Rustin

14

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10 November 2019

A Munnich

13

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10 November 2019

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1 September 2001

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10 November 2019

Nature Genetics

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10 November 2019

29

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10 November 2019

1

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10 November 2019

57-60

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10 November 2019

https://scigraph.springernature.com/pub.10.1038/ng706

0 references

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

The nuclear ABC1 gene is essential for the correct conformation and functioning of the cytochrome bc1 complex and the neighbouring complexes II and IV in the mitochondrial respiratory chain.

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Yeast/E. coli shuttle vectors with multiple unique restriction sites

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex.

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in SURF1 are not specifically associated with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

A SURF1 gene mutation presenting as isolated leukodystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Physical and genetic organization of petite and grande yeast mitochondrial DNA. IV. In vivo transcription products of mitochondrial DNA and localization of 23 S ribosomal RNA in petite mutants of saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Applications of high efficiency lithium acetate transformation of intact yeast cells using single-stranded nucleic acids as carrier

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG706

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

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10 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528392%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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