Associated Papers
Copper in Human Health and Disease: Insights from Inherited Disorders.
Petruzzelli R et al.
Physiology (bethesda, Md.), 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
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
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Roy S et al.
Scientific Reports, 2020
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
Dynamics of the metal binding domains and regulation of the human copper transporters ATP7B and ATP7A.
Yu CH et al.
Iubmb Life, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
Braiterman LT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Diverse functional properties of Wilson disease ATP7B variants.
Huster D et al.
Gastroenterology, 2012
Defining Wilson disease phenotypes: from the patient to the bench and back again.
Ferenci P et al.
Gastroenterology, 2012
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Usta J et al.
Jimd Reports, 2012
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