Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. (Q37083427)

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6 March 2020

title

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia (English)

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6 March 2020

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Aurélien Bayot

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Sandra T Cooper

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Nigel G Laing

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David Thorburn

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John Christodoulou

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Lisa Riley

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Minal Menezes

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Richard J N Allcock

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author name string

Manuel Schiff

3

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Malgorzata Rak

5

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Chen-Hsien Su

7

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Mylene Gilleron

8

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Anne Lombes

9

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Heni Abida

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Alexander Tzagoloff

11

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Kym Mina

14

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Padma Sivadorai

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Mark R Davis

16

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Nina Kresoje

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Abdelhamid Slama

21

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Pierre Rustin

23

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Hélène Ogier de Baulny

6

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language of work or name

English

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publication date

1 August 2013

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American Journal of Human Genetics

6 March 2020

published in

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volume

93

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issue

2

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page(s)

384-389

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A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.

6 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738829

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

29 September 2017

1 reference

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The role of mitochondria in the pathogenesis of type 2 diabetes

29 September 2017

1 reference

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Reactive oxygen species enhance insulin sensitivity

29 September 2017

1 reference

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Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738829

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738829

Respiratory complex III is required to maintain complex I in mammalian mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738829

Protonmotive pathways and mechanisms in the cytochrome bc1 complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738829

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia 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=3738829

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738829

Clinical spectrum and diagnosis of mitochondrial disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738829

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

29 September 2017

1 reference

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Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex

29 September 2017

1 reference

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Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

29 September 2017

1 reference

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Significance of respirasomes for the assembly/stability of human respiratory chain complex I.

3 September 2018

1 reference

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10.1016/J.AJHG.2013.06.015

3 September 2018

Identifiers

DOI

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release_cvj4ouegv5g65fl4kjyiliolme

6 March 2020

Fatcat ID

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Fatcat

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mapped directly with Wikidata item

24 November 2022

based on heuristic

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6 March 2020

PubMed publication ID

23910460

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