Associated Papers
The pathogenesis of liver fibrosis in Wilson's disease: hepatocyte injury and regulation mediated by copper metabolism dysregulation.
Ma Y et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2026
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
Gorukmez O et al.
Fetal and Pediatric Pathology, 2023
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.
Das S et al.
Human Mutation, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Wilson disease missense mutations in ATP7B affect metal-binding domain structural dynamics.
Shanmugavel KP et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2019
In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction.
Kumari N et al.
Molecular Biology Reports, 2019
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X et al.
Human Mutation, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.
Gupta A et al.
Metallomics : Integrated Biometal Science, 2018
The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation.
Yu CH et al.
Scientific Reports, 2018
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.
Ariöz C et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Lepori MB et al.
Molecular and Cellular Probes, 2012
Diverse functional properties of Wilson disease ATP7B variants.
Huster D et al.
Gastroenterology, 2012
Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
Materia S et al.
The Journal of Biological Chemistry, 2012
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Zali N et al.
Hepatitis Monthly, 2011
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver Disease, 2011
Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
Materia S et al.
The Journal of Biological Chemistry, 2011
Molecular pathology of Wilson's disease: a brief.
Lalioti V et al.
Journal of Hepatology, 2010
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
van den Berghe PV et al.
Hepatology (baltimore, Md.), 2009
Conformational dynamics of metal-binding domains in Wilson disease protein: molecular insights into selective copper transfer.
Rodriguez-Granillo A et al.
Biochemistry, 2009
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Kenney SM et al.
Human Mutation, 2007
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
de Bie P et al.
Gastroenterology, 2007
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu YH et al.
Clinical Genetics, 2003
Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis.
Hamza I et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G et al.
Human Mutation, 1998