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The molecular basis of copper-transport diseases.
Trends Mol Med. 2001 Feb; 7(2):64-9.TM

Abstract

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.

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  • Publisher Full Text

    • Authors+Show Affiliations

    Mercer JF
    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

    MeSH

    Alzheimer DiseaseCopperGenetic LinkageHepatolenticular DegenerationHumansMenkes Kinky Hair SyndromeModels, BiologicalMutationPhenotypeX Chromosome

    Pub Type(s)

    Journal Article
    Review

    Language

    eng

    PubMed ID

    11286757

    Citation

    Mercer, J F.. "The Molecular Basis of Copper-transport Diseases." Trends in Molecular Medicine, vol. 7, no. 2, 2001, pp. 64-9.
    Mercer JF. The molecular basis of copper-transport diseases. Trends Mol Med. 2001;7(2):64-9.
    Mercer, J. F. (2001). The molecular basis of copper-transport diseases. Trends in Molecular Medicine, 7(2), 64-9.
    Mercer JF. The Molecular Basis of Copper-transport Diseases. Trends Mol Med. 2001;7(2):64-9. PubMed PMID: 11286757.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - The molecular basis of copper-transport diseases. A1 - Mercer,J F, PY - 2001/4/5/pubmed PY - 2001/6/2/medline PY - 2001/4/5/entrez SP - 64 EP - 9 JF - Trends in molecular medicine JO - Trends Mol Med VL - 7 IS - 2 N2 - 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. SN - 1471-4914 UR - https://www.unboundmedicine.com/medline/citation/11286757/The_molecular_basis_of_copper_transport_diseases_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1471-4914(01)01920-7 DB - PRIME DP - Unbound Medicine ER -