(Q40071443)

17 September 2017

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. (English)

1 reference

17 September 2017

8

1 reference

17 September 2017

Ezra Burstein

3

0 references

author name string

Prim de Bie

1

1 reference

17 September 2017

Bart van de Sluis

2

1 reference

17 September 2017

Peter V E van de Berghe

4

1 reference

17 September 2017

Patricia Muller

5

1 reference

17 September 2017

Ruud Berger

6

1 reference

17 September 2017

Jonathan D Gitlin

7

1 reference

17 September 2017

Leo W J Klomp

9

1 reference

17 September 2017

language of work or name

English

0 references

publication date

25 July 2007

1 reference

17 September 2017

1 reference

17 September 2017

133

1 reference

17 September 2017

4

1 reference

17 September 2017

1316-1326

1 reference

Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice

17 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Functional consequences of RNA interference targeting COMMD1 in a canine hepatic cell line in relation to copper toxicosis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

COMMD1 promotes the ubiquitination of NF-kappaB subunits through a cullin-containing ubiquitin ligase

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Regulation of epithelial sodium channels by the ubiquitin-proteasome proteolytic pathway

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Characterization of COMMD protein-protein interactions in NF-kappaB signalling

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

The many faces of the copper metabolism protein MURR1/COMMD1.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

ERAD: the long road to destruction

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

COMMD proteins, a novel family of structural and functional homologs of MURR1

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Molecular regulation of copper excretion in the liver

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

A novel role for XIAP in copper homeostasis through regulation of MURR1

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Identification of Murr1 as a regulator of the human delta epithelial sodium channel

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Animal models of copper-associated liver disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Identification of a new copper metabolism gene by positional cloning in a purebred dog population

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

A perspective on copper and liver disease in the dog.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Dimerization of NF-KB2 with RelA(p65) regulates DNA binding, transcriptional activation, and inhibition by an I kappa B-alpha (MAD-3)

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Rapid degradation of a large fraction of newly synthesized proteins by proteasomes.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

A comparison of copper-loading disease in Bedlington terriers and Wilson's disease in humans.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857755

Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17919502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/17919502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1053/J.GASTRO.2007.07.020

1 reference

17 September 2017

1 reference

17 September 2017

PubMed publication ID

17919502

1 reference