Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. (Q52656660)

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scientific article published on 18 January 2015

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English	Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.	scientific article published on 18 January 2015

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scholarly article

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. (English)

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

3-methylglutaconic aciduria

1 reference

based on heuristic

inferred from title

Vincent Plagnol

5

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

author name string

Marta Kanabus

1

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

Rojeen Shahni

2

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

José W Saldanha

3

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

Elaine Murphy

4

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

William Van't Hoff

6

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

Simon Heales

7

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

Shamima Rahman

8

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

publication date

18 January 2015

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Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

Journal of Inherited Metabolic Disease

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Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

38

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Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

2

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Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

211-219

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Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

https://scigraph.springernature.com/pub.10.1007/s10545-015-9813-0

0 references

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

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High-resolution loss of heterozygosity screening implicates PTPRJ as a potential tumor suppressor gene that affects susceptibility to Non-Hodgkin's lymphoma.

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Head-to-tail interactions of the coiled-coil domains regulate ClpB activity and cooperation with Hsp70 in protein disaggregation

1 reference

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The expanding small heat-shock protein family, and structure predictions of the conserved "alpha-crystallin domain".

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Protein misfolding, functional amyloid, and human disease

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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

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

1 reference

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Protein rescue from aggregates by powerful molecular chaperone machines

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Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children.

1 reference

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

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Congenital cataracts and their molecular genetics

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

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Expression of alpha B-crystallin in the developing rat kidney

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The structure of ClpB: a molecular chaperone that rescues proteins from an aggregated state

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9813-0

21 January 2018

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

1 reference

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TMEM70 deficiency: long-term outcome of 48 patients

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Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

1 reference

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ClpB chaperone passively threads soluble denatured proteins through its central pore

1 reference

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A mitochondrial protein compendium elucidates complex I disease biology

1 reference

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Mitochondrial disease--an important cause of end-stage renal failure

1 reference

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Early endosomes and endosomal coatomer are required for autophagy

1 reference

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HSP104 required for induced thermotolerance

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HSP100/Clp proteins: a common mechanism explains diverse functions

1 reference

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Barth syndrome, a human disorder of cardiolipin metabolism

1 reference

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21 January 2018

Solubilization of aggregated proteins by ClpB/DnaK relies on the continuous extraction of unfolded polypeptides

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9813-0

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Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer

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Escherichia coli D-malate dehydrogenase, a generalist enzyme active in the leucine biosynthesis pathway

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Kidney and eye diseases: common risk factors, etiological mechanisms, and pathways.

1 reference

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Elements in nucleotide sensing and hydrolysis of the AAA+ disaggregation machine ClpB: a structure-based mechanistic dissection of a molecular motor

1 reference

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21 January 2018

ClpB and HtpG facilitate de novo protein folding in stressed Escherichia coli cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/25595726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of alphaB-crystallin, a biomarker of renal cell carcinoma by SELDI-TOF MS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25595726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

1 reference

https://pubmed.ncbi.nlm.nih.gov/25595726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Saccharomyces cerevisiae Hsp104 protein. Purification and characterization of ATP-induced structural changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/25595726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/25595726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-015-9813-0

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

1 reference

Europe PubMed Central

5 May 2018

http://europepmc.org/abstract/MED/25595726

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