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The molecular basis of copper-transport diseases
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 medicineVolume
7Issue
2Pagination
64 - 69Publisher
Elsevier Science LtdLocation
New York, N.Y.Publisher DOI
ISSN
1471-4914Language
engPublication classification
C1 Refereed article in a scholarly journalCopyright notice
2001, Elsevier Science Ltd.Usage metrics
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copperMenkes diseaseWilson diseaseOccipital horn syndromecopper toxicosisphysiologyneurodegenerativeScience & TechnologyLife Sciences & BiomedicineBiochemistry & Molecular BiologyCell BiologyMedicine, Research & ExperimentalResearch & Experimental MedicineINDIAN CHILDHOOD CIRRHOSISCLASSICAL MENKES-DISEASEMOTTLED MOUSE MUTANTSKINKY HAIR SYNDROMEWILSON-DISEASECANDIDATE GENESUPEROXIDE-DISMUTASEBINDING PROPERTIESTRAFFICKINGMUTATIONS
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