(Q39770874)

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Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

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scholarly article

1 reference

Europe PubMed Central

14 September 2017

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin (English)

1 reference

Europe PubMed Central

14 September 2017

molecular chaperones

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1 reference

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author name string

Peter V E van den Berghe

1

1 reference

Europe PubMed Central

14 September 2017

Janneke M Stapelbroek

2

1 reference

Europe PubMed Central

14 September 2017

Elmar Krieger

3

1 reference

Europe PubMed Central

14 September 2017

Prim de Bie

4

1 reference

Europe PubMed Central

14 September 2017

Stan F J van de Graaf

5

1 reference

Europe PubMed Central

14 September 2017

Reinoud E A de Groot

6

1 reference

Europe PubMed Central

14 September 2017

Ellen van Beurden

7

1 reference

Europe PubMed Central

14 September 2017

Ellen Spijker

8

1 reference

Europe PubMed Central

14 September 2017

Roderick H J Houwen

9

1 reference

Europe PubMed Central

14 September 2017

Ruud Berger

10

1 reference

Europe PubMed Central

14 September 2017

Leo W J Klomp

11

1 reference

Europe PubMed Central

14 September 2017

language of work or name

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publication date

1 December 2009

1 reference

Europe PubMed Central

14 September 2017

1 reference

Europe PubMed Central

14 September 2017

50

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Europe PubMed Central

14 September 2017

6

1 reference

Europe PubMed Central

14 September 2017

1783-1795

1 reference

Europe PubMed Central

14 September 2017

Wilson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Wilson's disease; new oral therapy

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Wilson disease--a practical approach to diagnosis, treatment and follow-up

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Paradigm shift in treatment of Wilson's disease: zinc therapy now treatment of choice

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Diagnosis and treatment of Wilson disease: an update

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Biochemical characterization and intracellular localization of the Menkes disease protein

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

ATP7B expression in human breast epithelial cells is mediated by lactational hormones.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Modulation of deltaF508 cystic fibrosis transmembrane regulator trafficking and function with 4-phenylbutyrate and flavonoids

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Chemical rescue of deltaF508-CFTR mimics genetic repair in cystic fibrosis bronchial epithelial cells.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Cell-specific trafficking suggests a new role for renal ATP7B in the intracellular copper storage

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

COMMD proteins: COMMing to the scene.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Phenylacetylglutamine May Replace Urea as a Vehicle for Waste Nitrogen Excretion

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Prospective treatment of urea cycle disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Curcumin labels amyloid pathology in vivo, disrupts existing plaques, and partially restores distorted neurites in an Alzheimer mouse model.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

21 January 2018

Initial therapy of patients with Wilson's disease with tetrathiomolybdate

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

7 January 2021

based on heuristic

inferred from DOI database lookup

Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis and management of Wilson's disease: results of a single center experience

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

7 January 2021

based on heuristic

inferred from DOI database lookup

Induction of HSP70 promotes DeltaF508 CFTR trafficking

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

7 January 2021

based on heuristic

inferred from DOI database lookup

4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

7 January 2021

based on heuristic

inferred from DOI database lookup

A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function

1 reference

https://api.crossref.org/works/10.1002%2FHEP.23209

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HEP.23209

1 reference

Europe PubMed Central

14 September 2017

1 reference

Europe PubMed Central

14 September 2017

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