The molecular basis of copper-transport diseases


Autoria(s): Mercer, Julian
Data(s)

01/02/2001

Resumo

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.<br />

Identificador

http://hdl.handle.net/10536/DRO/DU:30001286

Idioma(s)

eng

Publicador

Elsevier Science Ltd

Relação

http://dro.deakin.edu.au/eserv/DU:30001286/n20011078.pdf

http://dx.doi.org/10.1016/S1471-4914(01)01920-7

Direitos

2001, Elsevier Science Ltd.

Palavras-Chave #copper #Menkes disease #Wilson disease #Occipital horn syndrome #copper toxicosis #physiology #neurodegenerative
Tipo

Journal Article