(Q37083427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Aurélien Bayot

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Sandra T Cooper

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Nigel G Laing

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

David Thorburn

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

John Christodoulou

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

12

Lisa Riley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

2

Minal Menezes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

17

Richard J N Allcock

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Manuel Schiff

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Malgorzata Rak

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Chen-Hsien Su

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Mylene Gilleron

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Anne Lombes

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Heni Abida

10

1 reference

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6 March 2020

Alexander Tzagoloff

11

1 reference

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6 March 2020

Kym Mina

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Padma Sivadorai

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Mark R Davis

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Nina Kresoje

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Abdelhamid Slama

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Pierre Rustin

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Hélène Ogier de Baulny

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

language of work or name

English

0 references

publication date

1 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

384-389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

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

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

The role of mitochondria in the pathogenesis of type 2 diabetes

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

Reactive oxygen species enhance insulin sensitivity

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

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

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

Complete structure of the 11-subunit bovine mitochondrial 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

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

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

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

3 September 2018

1 reference

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

10.1016/J.AJHG.2013.06.015

3 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

release_cvj4ouegv5g65fl4kjyiliolme

6 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cvj4ouegv5g65fl4kjyiliolme

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23910460%20AND%20SRC:MED&resulttype=core&format=json