Article

HSP70 as a target for correction of Wilson disease causing ATP7B mutants

2017-01-01

Abstract excerpt

Copper (Cu) is an essential micronutrient, which operates as a cofactor of enzymes regulating a wide range of critical physiological processes. However, Cu overload compromises the redox balance in cells and tissues causing serious toxicity. Removal of excess Cu from the body is driven be Cu-transporting ATPase ATP7B, which sequesters the potentially toxic metal and mediates its excretion into the bile. Mutations...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e8f187b6-147d-50c1-98ab-672b64f0b328
DOI: 10.21954/ou.ro.0000c67d

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

HSP70 as a target for correction of Wilson disease causing ATP7B mutantsDOI 10.21954/ou.ro.0000c67dRead

A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease.Semantic proximity Read

Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.Semantic proximity Read

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.Semantic proximity Read

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.Semantic proximity Read

[Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].Semantic proximity Read

Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.Semantic proximity Read

Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.Semantic proximity Read

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.Semantic proximity Read

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

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.Semantic proximity Read

Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.Semantic proximity Read

Wilson disease: new insights into pathogenesis, diagnosis, and future therapy.Semantic proximity Read