The molecular basis of copper-transport diseases

Mercer, Julian 2001, The molecular basis of copper-transport diseases, Trends in molecular medicine, vol. 7, no. 2, pp. 64-69, doi: 10.1016/S1471-4914(01)01920-7.

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Title The molecular basis of copper-transport diseases
Author(s) Mercer, Julian
Journal name Trends in molecular medicine
Volume number 7
Issue number 2
Start page 64
End page 69
Publisher Elsevier Science Ltd
Place of publication New York, N.Y.
Publication date 2001-02-01
ISSN 1471-4914
Keyword(s) copper
Menkes disease
Wilson disease
Occipital horn syndrome
copper toxicosis
Summary 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.
Language eng
DOI 10.1016/S1471-4914(01)01920-7
Field of Research 060499 Genetics not elsewhere classified
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2001, Elsevier Science Ltd.
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