(Q42013487)

English

A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.

scientific article published on 15 June 2010

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

apoptotic process

1 reference

based on heuristic

inferred from title

Shashwata Mukherjee

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Mainak Sengupta

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Arnab Gupta

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Ishita Chattopadhyay

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Shyamal K Das

5

1 reference

Europe PubMed Central

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5 February 2020

language of work or name

0 references

publication date

15 June 2010

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Behavioral and Brain Functions

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

33

1 reference

Europe PubMed Central

PMC publication ID

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5 February 2020

https://scigraph.springernature.com/pub.10.1186/1744-9081-6-33

0 references

COMMD1 forms oligomeric complexes targeted to the endocytic membranes via specific interactions with phosphatidylinositol 4,5-bisphosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

Function and regulation of human copper-transporting ATPases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

Characterization and copper binding properties of human COMMD1 (MURR1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

Perspectives on Wilson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

5 June 2018

Nuclear-cytosolic transport of COMMD1 regulates NF-kappaB and HIF-1 activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

17 August 2018

Subcortical white matter abnormalities related to drug resistance in Wilson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

17 August 2018

Molar tooth development in caspase-3 deficient mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

17 August 2018

Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

17 August 2018

The Wilson disease gene: spectrum of mutations and their consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896338

17 August 2018

Use of zinc acetate to treat copper toxicosis in dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/20550661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20550661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20550661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20550661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1744-9081-6-33

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550661%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

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