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The molecular basis of copper-transport diseases

journal contribution
posted on 2001-02-01, 00:00 authored by Julian MercerJulian Mercer
Copper (Cu) is a potentially toxic yet essential element. Menkes disease, a copper deficiency disorder, and Wilson disease, a copper toxicosis condition, are two human genetic disorders, caused by mutations of two closely related Cu-transporting ATPases. Both molecules efflux copper from cells. Quite diverse clinical phenotypes are produced by different mutations of these two Cu-transporting proteins. The understanding of copper homeostasis has become increasingly important in clinical medicine as the metal could be involved in the pathogenesis of some important neurological disorders such as Alzheimer's disease, motor neurone diseases and prion diseases.

History

Journal

Trends in molecular medicine

Volume

7

Pagination

64-69

Location

New York, N.Y.

ISSN

1471-4914

Language

eng

Publication classification

C1 Refereed article in a scholarly journal

Copyright notice

2001, Elsevier Science Ltd.

Issue

2

Publisher

Elsevier Science Ltd

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