(Q34774345)

4 August 2017

title

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ (English)

1 reference

4 August 2017

1 reference

Ohad S Birk

0 references

Ann Saada

0 references

Ortal Barel

1 reference

4 August 2017

Zamir Shorer

1 reference

4 August 2017

Hagit Flusser

1 reference

4 August 2017

Rivka Ofir

1 reference

4 August 2017

Ginat Narkis

1 reference

4 August 2017

Gal Finer

1 reference

4 August 2017

Hanah Shalev

1 reference

4 August 2017

Ahmad Nasasra

1 reference

4 August 2017

language of work or name

English

0 references

publication date

24 April 2008

1 reference

American Journal of Human Genetics

4 August 2017

published in

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4 August 2017

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4 August 2017

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4 August 2017

page(s)

1211-1216

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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Supramolecular structure of the mitochondrial oxidative phosphorylation system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Tandem repeats finder: a program to analyze DNA sequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

The small molecular mass ubiquinone-binding protein (QPc-9.5 kDa) in mitochondrial ubiquinol-cytochrome c reductase: isolation, ubiquinone-binding domain, and immunoinhibition

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Exact genetic linkage computations for general pedigrees

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

Cytochrome b mutations in Leber hereditary optic neuropathy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427202

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18439546

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18439546

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18439546

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.03.020

1 reference

4 August 2017

1 reference

4 August 2017

1 reference