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Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A\u2010related isolated distal motor neuropathy. Several other novel inherited disorders of copper metabolism have been identified in the past several years, aided by advances in human gene mapping and automated DNA sequencing. In this paper, I review the history and evolution of our understanding of disorders caused by impaired ATP7A function, and outline future challenges.<\/jats:p>","DOI":"10.1111\/nyas.12422","type":"journal-article","created":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T17:22:45Z","timestamp":1397582565000},"page":"64-68","source":"Crossref","is-referenced-by-count":29,"title":["Translational research investigations on ATP7A: an important human copper ATPase"],"prefix":"10.1111","volume":"1314","author":[{"given":"Stephen G.","family":"Kaler","sequence":"first","affiliation":[{"name":"Section on Translational Neuroscience Molecular Medicine Program Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2010.180"},{"key":"e_1_2_7_3_1","first-page":"764","article-title":"A sex\u2010linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration","volume":"29","author":"Menkes J.H.","year":"1962","journal-title":"Pediatrics"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-7"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-14"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-20"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1094-195"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)91433-X"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00045-9"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(93)90175-U"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9118-2"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83496-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0065-3101(24)00096-3","article-title":"Menkes disease","volume":"41","author":"Kaler S.G.","year":"1994","journal-title":"Adv Pediatr."},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(02)01095-3"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31001"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.05.041"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32834ea52b"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330206"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00714295"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-009-9933-8"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa070613"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2011.143"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2006.05.009"},{"key":"e_1_2_7_24_1","article-title":"AAVrh10\u2010ATP7A administration to the cerebrospinal fluid, in combination with subcutaneous copper, normalizes neurological outcomes in a mouse model of Menkes disease","volume":"22","author":"Haddad M.R.","year":"2014","journal-title":"Mol. 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