NR AIHG
AU Mercer,J.F.
TI The molecular basis of copper-transport diseases
QU Trends in Molecular Medicine 2001 Feb; 7(2): 64-9
PT journal article; review; review, tutorial
AB 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.
ZR 42
MH Alzheimer Disease/genetics/metabolism; Copper/*metabolism/*pharmacokinetics; Hepatolenticular Degeneration/genetics/metabolism; Human; Linkage (Genetics); Menkes Kinky Hair Syndrome/genetics/metabolism; Models, Biological; Mutation; Phenotype; X Chromosome/genetics
AD Centre of Cellular and Molecular Biology, School of Biological and Chemical Sciences, Deakin University, 221 Burwood Highway, Vic 3125, Burwood, Australia. jmercer@deakin.edu.au
SP englisch
PO England