Abstract
Copper through its role in a number of metalloenzymes has important functions in the vascular, skeletal and central nervous systems, haemopoiesis, keratin formation and pigmentation. Transport and storage systems need to have evolved to cope with both deficiency and excess states. One can postulate that because of its toxicity in the “free” form Cu is transported and stored in sequestered non-toxic forms. Transport may occur via a series of carrier-proteins which deliver Cu to the apoenzymes which require it. The existence of mutations which affect particular steps in the metabolism of Cu offers a powerful probe for identifying those steps. Menkes1 syndrome (X-linked) and Wilson’s disease (autosomal recessive) in man, and the series of mottled mutations (X-linked) in the mouse are such examples. Furthermore, understanding of the basic defect and its effects is a pre-requisite to rational treatment and diagnosis of these disorders.
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Camakaris, J., Danks, D.M., Phillips, M., Herd, S., Mann, J.R. (1982). Copper Metabolism in Menkes’ Syndrome and Mottled Mouse Mutants. In: Sorenson, J.R.J. (eds) Inflammatory Diseases and Copper. Experimental Biology and Medicine, vol 2. Humana Press. https://doi.org/10.1007/978-1-4612-5829-2_9
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DOI: https://doi.org/10.1007/978-1-4612-5829-2_9
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