Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference19 articles.
1. Wilson's disease: an update
2. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients
3. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
4. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
5. Functional Interactions of Cu-ATPase ATP7B with Cisplatin and the Role of ATP7B in the Resistance of Cells to the Drug
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1. Structure and mechanism of the human copper transporting ATPases: Fitting the pieces into a moving puzzle;Biochimica et Biophysica Acta (BBA) - Biomembranes;2024-04
2. Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions;International Journal of Molecular Sciences;2024-02-18
3. Identification of novel compound ATP7B mutations in a child with rare Wilson disease: A case report;2023-01-11
4. Copper binding leads to increased dynamics in the regulatory N-terminal domain of full-length human copper transporter ATP7B;PLOS Computational Biology;2022-09-07
5. Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease;Human Mutation;2022-07-16
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