Communicated by A. Jamie Cuticchia Wilson disease (WND) is a disorder of copper transport resulting in copper accumulation in liver, kidney, and brain. This recessive disorder expresses variable clinical symptoms affecting liver, brain, and/or kidney. The age of onset of symptoms varies from 3 to al
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B
β Scribed by Leiah M. Luoma; Taha M.M. Deeb; Georgina Macintyre; Diane W. Cox
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 473 KB
- Volume
- 31
- Category
- Article
- ISSN
- 1059-7794
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π SIMILAR VOLUMES
ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND). Functional assessment of variants helps to distinguish normal from disease-causing variants and provides information on important amino acid residues. A total of 11 missen
Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a coppertransporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan. We identified 36 different mutations, eight of which were novel: five missense mutations (Ser
The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq