(Q34458614)

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CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria (English)

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Europe PubMed Central

PubMed publication ID

2 August 2017

Stephen F Kingsmore

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Stephen F Kingsmore

11

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Peter Bross

5

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author name string

Carol Saunders

1

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Europe PubMed Central

PubMed publication ID

2 August 2017

Laurie Smith

2

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Europe PubMed Central

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2 August 2017

Flemming Wibrand

3

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Europe PubMed Central

PubMed publication ID

2 August 2017

Kirstine Ravn

4

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Europe PubMed Central

PubMed publication ID

2 August 2017

Isabelle Thiffault

6

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Europe PubMed Central

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2 August 2017

Mette Christensen

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Andrea Atherton

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Emily Farrow

9

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Neil Miller

10

1 reference

Europe PubMed Central

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2 August 2017

Elsebet Ostergaard

12

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Europe PubMed Central

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2 August 2017

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publication date

15 January 2015

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Europe PubMed Central

PubMed publication ID

2 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

2 August 2017

96

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Europe PubMed Central

PubMed publication ID

2 August 2017

2

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Europe PubMed Central

PubMed publication ID

2 August 2017

258-265

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Europe PubMed Central

PubMed publication ID

2 August 2017

Lipid metabolism in mitochondrial membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Mitochondrial membrane assembly of TMEM70 protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Molecular chaperone disorders: defective Hsp60 in neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Where the endoplasmic reticulum and the mitochondrion tie the knot: the mitochondria-associated membrane (MAM)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

The mevalonate pathway in C. elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Mitochondrial protein-import machinery: correlating structure with function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

The disaggregation activity of the mitochondrial ClpB homolog Hsp78 maintains Hsp70 function during heat stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Thermotolerance requires refolding of aggregated proteins by substrate translocation through the central pore of ClpB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

3-Methylglutaconic aciduria type I is caused by mutations in AUH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

A bichaperone (Hsp70-Hsp78) system restores mitochondrial DNA synthesis following thermal inactivation of Mip1p polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Mutation characterization and genotype-phenotype correlation in Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

The molecular chaperone Hsp78 confers compartment-specific thermotolerance to mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Hsp78, a Clp homologue within mitochondria, can substitute for chaperone functions of mt-hsp70

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

3-Methylglutaconic Acidemia in Smith-Lemli-Opitz Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

The mitochondrial ClpB homolog Hsp78 cooperates with matrix Hsp70 in maintenance of mitochondrial function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Mitochondrial heat-shock protein hsp60 is essential for assembly of proteins imported into yeast mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

ClpB is the Escherichia coli heat shock protein F84.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

6 July 2018

Novel mutations in the TAZ gene in patients with Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

In vivo experimental evidence that the major metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency induce oxidative stress in striatum of developing rats: a potential pathophysiological mechanism of striatal damage in this diso

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

Roles of individual domains and conserved motifs of the AAA+ chaperone ClpB in oligomerization, ATP hydrolysis, and chaperone activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320254

27 October 2018

Structure and function of Hsp78, the mitochondrial ClpB homolog

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The shunt pathway of mevalonate metabolism in the isolated perfused rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contribution of the shunt pathway of mevalonate metabolism to the regulation of cholesterol synthesis in rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25597511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2014.12.020

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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

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