Mutations in humans and animals which affect copper metabolism.
Various inherited disorders of copper metabolism in man and animals are reviewed. Emphasis is placed on the use of cultured cells from mutants to determine the primary molecular defects and to acquire basic knowledge of normal copper metabolism. This allows better diagnostic tests and possible treatment of the disorders. Menkes' disease in humans and mottled mouse mutants are discussed in detail, as they illustrate these approaches.
D000818:Animals; D001928:Brain Diseases, Metabolic / Q000378:metabolism*; D002478:Cells, Cultured; D003300:Copper / Q000378:metabolism*; D004195:Disease Models, Animal; D004285:Dogs; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000378:metabolism*; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology / Q000378:metabolism*; D008667:Metalloproteins / Q000378:metabolism; D008668:Metallothionein / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D008821:Mice, Quaking; D011247:Pregnancy; D008249:Protein-Lysine 6-Oxidase / Q000378:metabolism
D008667:Metalloproteins; D003300:Copper; D008668:Metallothionein; D008249:Protein-Lysine 6-Oxidase; D003576:Electron Transport Complex IV