ArticleHuman genetics2004
A comparison of the mutation spectra of Menkes disease and Wilson disease.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 66 citations in OpenAlex.
- Biometals in rare neurodegenerative disorders of childhood.Frontiers in aging neuroscience · 2013Article
- Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.American journal of human genetics · 2010Article
- Copper in the brain and Alzheimer's disease.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2010Review
- The pathobiology of splicing.The Journal of pathology · 2010Review
- Structural basis for autoregulation of the zinc transporter YiiP.Nature structural & molecular biology · 2009Article
- Crystallization and preliminary X-ray studies of the N-domain of the Wilson disease associated protein.Acta crystallographica. Section F, Structural biology and crystallization communications · 2009Article
- Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.Journal of medical genetics · 2007Review
- Characterization and structure of a Zn2+ and [2Fe-2S]-containing copper chaperone from Archaeoglobus fulgidus.The Journal of biological chemistry · 2007Article
- Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Wilson disease: new insights into pathogenesis, diagnosis, and future therapy.Current gastroenterology reports · 2005Review
- Contribution of Va24Vb11 natural killer T cells in Wilsonian hepatitis.Clinical and experimental immunology · 2005Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and Wilson disease (WND), respectively. A comparison of the two proteins shows extensive conservation in the signature domains, with amino acid identities outside of the conserved domains being limited. The mutation spectra of MNK and WND were compared to confirm and refine further regions critical for normal function. Mutations were found to be relatively widespread; however, the majority was concentrated within defined functional domains and membrane-spanning segments, reinforcing the importance of these regions for protein function. Of the total published point mutations in ATP7A, 23.0% are splice-site, 20.7% nonsense, 17.2% missense, and 39.1% small insertions/deletions. There is a high prevalence (58.2%) of missense mutations in ATP7B. For the other mutations in ATP7B, 7.4% are splice-site, 7.4% nonsense, and 27.0% small insertions/deletions. A region of possible importance is the intervening sequence between the last copper-binding domain and the first transmembrane helix, as this region has a high percentage of MNK mutations. Similarly, the region containing the ATP-binding domain has 24.6% of all WND mutations. The study of mutation locations is useful for defining critical regions or residues and for efficient molecular diagnosis.
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