(Q33558941)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

28 July 2017

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

1 reference

Europe PubMed Central

28 July 2017

0 references

1 reference

based on heuristic

inferred from title

author name string

A S Payne

1

1 reference

Europe PubMed Central

28 July 2017

E J Kelly

2

1 reference

Europe PubMed Central

28 July 2017

J D Gitlin

3

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 September 1998

1 reference

Europe PubMed Central

28 July 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

28 July 2017

95

1 reference

Europe PubMed Central

28 July 2017

10854-10859

1 reference

Europe PubMed Central

28 July 2017

18

1 reference

Europe PubMed Central

28 July 2017

Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Molecular advances in Wilson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Biochemical characterization and intracellular localization of the Menkes disease protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Protein targeting by tyrosine- and di-leucine-based signals: evidence for distinct saturable components

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Wilson disease: genetic basis of copper toxicity and natural history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Ceruloplasmin gene expression in the murine central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Menkes disease mutations and response to early copper histidine treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

A murine model of Menkes disease reveals a physiological function of metallothionein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Identification of regions in the Ca(2+)-ATPase of sarcoplasmic reticulum that affect functional association with phospholamban.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

21 June 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=27985

31 October 2018

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

31 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=27985

31 October 2018

Expression, Purification, and Metal Binding Properties of the N-terminal Domain from the Wilson Disease Putative Copper-transporting ATPase (ATP7B)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9724794

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9724794

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9724794

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The plasma membrane Ca2+ pump contains a site that interacts with its calmodulin-binding domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/9724794

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early copper-histidine treatment for Menkes disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9724794

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9724794

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in Wilson disease: lessons from rare alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/9724794

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.95.18.10854

1 reference

Europe PubMed Central

28 July 2017

1998PNAS...9510854P

0 references

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q33558941&oldid=1952028361"