The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
Open accessAbstract
The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes disease) or copper overload (Wilson disease), respectively. ATP7A and ATP7B exert their functions in copper transport through a variety of interdependent mechanisms and regulatory events, including their catalytic ATPase activity, copper-induced trafficking, post-translational modifications and protein–protein interactions. This paper reviews the extensive efforts that have been undertaken over the past few years to dissect and characterise these mechanisms, and how these are affected in Menkes and Wilson disease. As both disorders are characterised by an extensive clinical heterogeneity, we will discus how the underlying genetic defects correlate with the molecular functions of ATP7A and ATP7B and with the clinical expression of these disorders.
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Cites
Oxidative mechanisms in the toxicity of metal ions
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Cu(I) binding and transfer by the N terminus of the Wilson disease protein.
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CopZ from Bacillus subtilis interacts in vivo with a copper exporting CPx-type ATPase CopA
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Cited by
Ward, A. J., & Cooper, T. A. (2010) · The Journal of Pathology · doi:10.1002/path.2649 · Cited by 414
Crystal structure of a copper-transporting PIB-type ATPase
Gourdon, P., Liu, X.-Y., Skjørringe, T., Morth, J. P., Møller, L. B., Pedersen, B. P., & Nissen, P. (2011) · Nature · doi:10.1038/nature10191 · Cited by 344
Copper pathology in vulnerable brain regions in Parkinson's disease
Davies, K. M., Bohic, S., Carmona, A., Ortega, R., Cottam, V., Hare, D. J., Finberg, J. P. M., Reyes, S., Halliday, G. M., Mercer, J. F. B., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.09.034 · Cited by 244
The elements of life: A biocentric tour of the periodic table
(2023) · Advances in Microbial Physiology · doi:10.1016/bs.ampbs.2022.11.001 · Cited by 71
Curnock, R., & Cullen, P. J. (2020) · Journal of Cell Science · doi:10.1242/jcs.249201 · Cited by 60
Metadata
- Authors
- de Bie, P., Muller, P., Wijmenga, C., & Klomp, L. W. J.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2007-08-23
- Volume
- 44
- Issue
- 11
- Pages
- 673-688
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2118189054
- Cited by
- 390
- References
- 6
- FWCI
- 17.75
- Type
- journal article
- Language
- en
- Open access
- bronze
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- de Bie, P., Muller, P., Wijmenga, C., & Klomp, L. W. J. (2007). Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2007.052746
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
