ArticleMetallomics : integrated biometal science2012
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
Article in Metallomics : integrated biometal science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Cuproptosis: Mechanisms, biological significance, and advances in disease treatment-A systematic review.CNS neuroscience & therapeutics · 2024Pooled it
- Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.Metallomics : integrated biometal science · 2023Pooled it
- Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bpDiagnostics (Basel, Switzerland) · 2026Article
- Genome-wide association study of molecular markers related to keel length in a specialized strain of yellow feathered broilers.Poultry science · 2026Article
- Mechanisms and therapeutic strategies of copper homeostasis in the pathogenesis of sepsis-induced cardiomyopathy.Frontiers in cell and developmental biology · 2026Review
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Tumor glucose reprogramming suppresses cuproptosis: A review.Biomolecules & biomedicine · 2025Review
- CLSI Validation of Exchangeable Copper Determination in Serum by ICP-MS: A Focus on Alzheimer's Disease and Wilson Disease.Biomolecules · 2025Article
- Effects of Dietary Copper Sources and Levels on Liver Copper Metabolism and the Expression of Transporters in Growing Pigs.Animals : an open access journal from MDPI · 2025Article
- Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.Human mutation · 2025Article
- Review of the Efficacy and Mechanisms of Traditional Chinese Medicine for Treating Multi-Organ Damage in Wilson's Disease.Drug design, development and therapy · 2025Review
- Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.Molecular genetics and metabolism reports · 2023Article
- Significance of cuproptosis- related genes in the diagnosis and classification of psoriasis.Frontiers in molecular biosciences · 2023Article
- Copper binding leads to increased dynamics in the regulatory N-terminal domain of full-length human copper transporter ATP7B.PLoS computational biology · 2022Article
- Mutation spectrum ofMolecular genetics and metabolism reports · 2022Article
- Article
- At sixes and sevens: cryptic domain in the metal binding chain of the human copper transporter ATP7A.Biophysical journal · 2021Article
- The Crossroads between Host Copper Metabolism and Influenza Infection.International journal of molecular sciences · 2021Review
- Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein.Metallomics : integrated biometal science · 2019Article
- [Misdiagnosis of Wilson's disease despite positive genetics].Der Nervenarzt · 2018Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
The copper-transporting ATPase ATP7B has an essential role in human physiology, particularly for the liver and brain function. Inactivation of ATP7B is associated with a severe hepato-neurologic disorder, Wilson disease (WD). Hundreds of WD related mutations have been identified in ATP7B to date. The low frequency and the compound-heterozygous nature of causative mutations complicate the analysis of individual mutants and the establishment of genotype-phenotype correlations. To facilitate studies of disease-causing mutations and mechanistic understanding of WD, we have homology-modelled the ATP7B core (residues 643-1377) using the recent structure of the bacterial copper-ATPase LCopA as a template. The model, supported by evolutionary conservation and hydrophobicity analysis, as well as existing and new mutagenesis data, allows molecular interpretations of experimentally characterized clinical mutations. We also illustrate that structure and conservation can be used to grade potential deleterious effects for many WD mutations, which were clinically detected but have not yet been experimentally characterized. Finally, we compare the structural features of ATP7B and LCopA and discuss specific features of the eukaryotic copper pump.
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