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ATP7A and ATP7B exert their functions in copper transport through a variety of interdependent mechanisms and regulatory events, including their catalytic ATPase activity, copper-induced trafficking, post-translational modifications and protein\u2013protein interactions. This paper reviews the extensive efforts that have been undertaken over the past few years to dissect and characterise these mechanisms, and how these are affected in Menkes and Wilson disease. As both disorders are characterised by an extensive clinical heterogeneity, we will discus how the underlying genetic defects correlate with the molecular functions of ATP7A and ATP7B and with the clinical expression of these disorders.<\/jats:p>","DOI":"10.1136\/jmg.2007.052746","type":"journal-article","created":{"date-parts":[[2007,8,23]],"date-time":"2007-08-23T20:51:27Z","timestamp":1187902287000},"page":"673-688","source":"Crossref","is-referenced-by-count":348,"title":["Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes"],"prefix":"10.1136","volume":"44","author":[{"given":"P","family":"de Bie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Muller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Wijmenga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L W J","family":"Klomp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,8,23]]},"reference":[{"key":"2025100511215935000_44.11.673.1","first-page":"3105","article-title":"Disorders of copper transport.","volume-title":"The metabolic and molecular bases of inherited disease","volume":"2","author":"Culotta","year":"2001"},{"key":"2025100511215935000_44.11.673.2","doi-asserted-by":"publisher","DOI":"10.1016\/0891-5849(94)00159-H"},{"key":"2025100511215935000_44.11.673.3","first-page":"764","article-title":"A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.","volume":"29","author":"Menkes","year":"1962","journal-title":"Pediatrics"},{"key":"2025100511215935000_44.11.673.4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/34.4.295"},{"key":"2025100511215935000_44.11.673.5","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1093\/ajcn\/67.5.1074S","article-title":"Role of copper in Indian childhood cirrhosis.","volume":"67","author":"Tanner","year":"1998","journal-title":"Am J Clin Nutr"},{"key":"2025100511215935000_44.11.673.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)91351-3"},{"key":"2025100511215935000_44.11.673.7","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1093\/ajcn\/67.5.1082S","article-title":"Idiopathic copper toxicosis.","volume":"67","author":"Muller","year":"1998","journal-title":"Am J Clin Nutr"},{"key":"2025100511215935000_44.11.673.8","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1093\/ajcn\/63.5.842","article-title":"Wilson disease and idiopathic copper toxicosis.","volume":"63","author":"Scheinberg","year":"1996","journal-title":"Am J Clin Nutr"},{"key":"2025100511215935000_44.11.673.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)91433-X"},{"key":"2025100511215935000_44.11.673.10","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/BF00201846","article-title":"Incidence of Menkes disease.","volume":"86","author":"Tonnesen","year":"1991","journal-title":"Hum Genet"},{"key":"2025100511215935000_44.11.673.11","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0473-3"},{"key":"2025100511215935000_44.11.673.12","unstructured":"Danks DM . 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