A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways
Author:
Affiliation:
1. Department of Biological Sciences
2. Indian Institute of Science Education and Research - Kolkata (IISER K)
3. Mohanpur 741246
4. India
5. Academy of Scientific & Innovative Research (AcSIR)
6. CSIR - HRDC Campus
7. Ghaziabad
Abstract
Wilson disease (WD), a Mendelian disorder of copper metabolism caused by mutations in the ATP7B gene, manifests a large spectrum of phenotypic variability.
Funder
DBT India Alliance
Science and Engineering Research Board
Publisher
Oxford University Press (OUP)
Subject
Metals and Alloys,Biochemistry,Biomaterials,Biophysics,Chemistry (miscellaneous)
Link
http://pubs.rsc.org/en/content/articlepdf/2018/MT/C7MT00314E
Reference69 articles.
1. Essentiality of copper in humans
2. Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?
3. Cellular Copper Transport and Metabolism
4. Wilson disease: not just a copper disorder. Analysis of a Wilson disease model demonstrates the link between copper and lipid metabolism
5. Biochemical characterization of P-type copper ATPases
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