Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
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
The pathophysiology of Wilson's disease visualized: A human 64 Cu PET study.
Sandahl TD et al.
Hepatology (baltimore, Md.), 2022
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Roy S et al.
Scientific Reports, 2020
Wilson Disease in a Child With Mild Neuropsychiatric and Hepatic Involvement: A Challenging Diagnosis for a Heterogeneous Disorder.
Mosca A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Liver pathology in Wilson's disease: From copper overload to cirrhosis.
Gerosa C et al.
Journal of Inorganic Biochemistry, 2019
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 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
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Ljubić H et al.
Genetic Testing and Molecular Biomarkers, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
The CXXC motifs in the metal binding domains are required for ATP7B to mediate resistance to cisplatin.
Safaei R et al.
Journal of Inorganic Biochemistry, 2012
Clinical presentation and mutations in Danish patients with Wilson disease.
Møller LB et al.
European Journal of Human Genetics : Ejhg, 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
Conformational dynamics of metal-binding domains in Wilson disease protein: molecular insights into selective copper transfer.
Rodriguez-Granillo A et al.
Biochemistry, 2009
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
Lovicu M et al.
Genetic Testing and Molecular Biomarkers, 2009
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
Abdelghaffar TY et al.
Journal of Human Genetics, 2008
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
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Lepori MB et al.
Genetic Testing, 2007
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
Cox DW et al.
Human Mutation, 2005
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
Loudianos G et al.
Genetic Testing, 2003
Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase.
Vanderwerf SM et al.
The Journal of Biological Chemistry, 2001