(Q34461736)

English

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Jan-Willem Taanman

6

object named as

Jan-Willem Taanman

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Ronald J A Wanders

9

object named as

Ronald J A Wanders

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Sacha Ferdinandusse

1

object named as

Sacha Ferdinandusse

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Peter Theodore Clayton

1 reference

ORCID Public Data File 2021

12

object named as

Shamima Rahman

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

author name string

Hans R Waterham

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Simon J R Heales

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Garry K Brown

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Iain P Hargreaves

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Roxana Gunny

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Lara Abulhoul

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Peter T Clayton

10

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

James V Leonard

11

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

publication date

4 December 2013

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

188

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Quantitative mapping of reversible mitochondrial Complex I cysteine oxidation in a Parkinson disease mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Protection against oxidant-induced apoptosis by mitochondrial thioredoxin in SH-SY5Y neuroblastoma cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Glutathione deficiency in patients with mitochondrial disease: implications for pathogenesis and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Parkinson's disease: a disorder due to nigral glutathione deficiency?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Alpha-keto acid dehydrogenase complexes. 13. Reaction of sulfhydryl groups in pyruvate dehydrogenase with organic mercurials.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

6 July 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Diagnosis of mitochondrial DNA depletion syndromes

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Organization and functioning of muscle pyruvate dehydrogenase active centers

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Direct evidence for S-nitrosation of mitochondrial complex I.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-188

21 January 2018

Neuroradiologic findings in children with mitochondrial disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

27 October 2018

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222069

27 October 2018

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma thiol status is altered in children with mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patients with organic acidaemias have an altered thiol status

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the essential cysteine residue in the active site of bovine pyruvate dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

REVERSIBLE INACTIVATION OF CYTOCHROME OXIDASE BY DISULFIDE BOND REAGENTS

1 reference

https://pubmed.ncbi.nlm.nih.gov/24299452

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-8-188

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

0 references

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