{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:31:24Z","timestamp":1787005884088,"version":"build-2736575974"},"reference-count":46,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,29]],"date-time":"2020-08-29T00:00:00Z","timestamp":1598659200000},"content-version":"vor","delay-in-days":1277,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["606609"],"award-info":[{"award-number":["606609"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jbc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1074\/jbc.m116.756163","type":"journal-article","created":{"date-parts":[[2017,1,24]],"date-time":"2017-01-24T20:40:38Z","timestamp":1485290438000},"page":"4113-4122","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":66,"title":["In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease"],"prefix":"10.1016","volume":"292","author":[{"given":"Stephen W.","family":"Mercer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Burke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1074\/jbc.M116.756163_bib1","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/dvg.20382","article-title":"The genetics of essential metal homeostasis during development","volume":"46","author":"Kambe","year":"2008","journal-title":"Genesis"},{"key":"10.1074\/jbc.M116.756163_bib2","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1002\/food.19880320811","article-title":"The physiological role of copper and the problems of copper nutritional deficiency","volume":"32","author":"Wachnik","year":"1988","journal-title":"Nahrung"},{"key":"10.1074\/jbc.M116.756163_bib3","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1074\/jbc.R800055200","article-title":"New roles for copper metabolism in cell proliferation, signaling, and disease","volume":"284","author":"Turski","year":"2009","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.756163_bib4","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1111\/j.1753-4887.2009.00250.x","article-title":"New developments in the regulation of intestinal copper absorption","volume":"67","author":"van den Berghe","year":"2009","journal-title":"Nutr. Rev"},{"key":"10.1074\/jbc.M116.756163_bib5","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng0193-20","article-title":"Isolation of a partial candidate gene for Menkes disease by positional cloning","volume":"3","author":"Mercer","year":"1993","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.M116.756163_bib6","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/ng0193-7","article-title":"Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase","volume":"3","author":"Vulpe","year":"1993","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.M116.756163_bib7","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ng0193-14","article-title":"Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein","volume":"3","author":"Chelly","year":"1993","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.M116.756163_bib8","doi-asserted-by":"crossref","first-page":"9640","DOI":"10.1074\/jbc.M413840200","article-title":"The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum","volume":"280","author":"Barnes","year":"2005","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.756163_bib9","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S1090-3798(99)90979-0","article-title":"Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease","volume":"3","author":"Menkes","year":"1999","journal-title":"Eur. J. Paediatr. Neurol"},{"key":"10.1074\/jbc.M116.756163_bib10","doi-asserted-by":"crossref","first-page":"G311","DOI":"10.1152\/ajpgi.1999.276.2.G311","article-title":"Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease","volume":"276","author":"Schaefer","year":"1999","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol"},{"key":"10.1074\/jbc.M116.756163_bib11","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.biocel.2009.11.007","article-title":"Mammalian copper-transporting P-type ATPases, ATP7A and ATP7B: emerging roles","volume":"42","author":"La Fontaine","year":"2010","journal-title":"Int. J. Biochem. Cell Biol"},{"key":"10.1074\/jbc.M116.756163_bib12","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1093\/hmg\/8.8.1547","article-title":"Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease","volume":"8","author":"Ambrosini","year":"1999","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.M116.756163_bib13","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/nrneurol.2010.180","article-title":"ATP7A-related copper transport diseases-emerging concepts and future trends","volume":"7","author":"Kaler","year":"2011","journal-title":"Nat. Rev. Neurol"},{"key":"10.1074\/jbc.M116.756163_bib14","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2007.052746","article-title":"Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes","volume":"44","author":"de Bie","year":"2007","journal-title":"J. Med. Genet"},{"key":"10.1074\/jbc.M116.756163_bib15","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2010.01.027","article-title":"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy","volume":"86","author":"Kennerson","year":"2010","journal-title":"Am. J. Hum. Genet"},{"key":"10.1074\/jbc.M116.756163_bib16","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1006\/bbrc.1993.2471","article-title":"Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease","volume":"197","author":"Yamaguchi","year":"1993","journal-title":"Biochem. Biophys. Res. Commun"},{"key":"10.1074\/jbc.M116.756163_bib17","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/ng1293-344","article-title":"The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene","volume":"5","author":"Tanzi","year":"1993","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.M116.756163_bib18","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1023\/A:1021297919034","article-title":"Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation","volume":"34","author":"Lutsenko","year":"2002","journal-title":"J. Bioenerg. Biomembr"},{"key":"10.1074\/jbc.M116.756163_bib19","doi-asserted-by":"crossref","first-page":"913","DOI":"10.3233\/JAD-2012-111997","article-title":"Association of K832R and R952K SNPs of Wilson's disease gene with Alzheimer's disease","volume":"29","author":"Bucossi","year":"2012","journal-title":"J. Alzheimers Dis"},{"key":"10.1074\/jbc.M116.756163_bib20","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1089\/rej.2012.1357","article-title":"Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease","volume":"16","author":"Squitti","year":"2013","journal-title":"Rejuvenation Res"},{"key":"10.1074\/jbc.M116.756163_bib21","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1091\/mbc.e05-06-0492","article-title":"Essential roles in development and pigmentation for the Drosophila copper transporter DmATP7","volume":"17","author":"Norgate","year":"2006","journal-title":"Mol. Biol. Cell"},{"key":"10.1074\/jbc.M116.756163_bib22","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s10534-010-9332-2","article-title":"Conservation of copper-transporting P(IB)-type ATPase function","volume":"23","author":"Southon","year":"2010","journal-title":"Biometals"},{"key":"10.1074\/jbc.M116.756163_bib23","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1016\/j.biocel.2008.01.021","article-title":"Expression and localisation of the essential copper transporter DmATP7 in Drosophila neuronal and intestinal tissues","volume":"40","author":"Burke","year":"2008","journal-title":"Int. J. Biochem. Cell Biol"},{"key":"10.1074\/jbc.M116.756163_bib24","doi-asserted-by":"crossref","first-page":"i859","DOI":"10.1136\/bmj.i859","article-title":"New and emerging targeted therapies for cystic fibrosis","volume":"352","author":"Quon","year":"2016","journal-title":"BMJ"},{"key":"10.1074\/jbc.M116.756163_bib25","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng0494-369","article-title":"The mottled gene is the mouse homologue of the Menkes disease gene","volume":"6","author":"Levinson","year":"1994","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.M116.756163_bib26","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1038\/249852a0","article-title":"Primary defect in copper transport underlies mottled mutants in the mouse","volume":"249","author":"Hunt","year":"1974","journal-title":"Nature"},{"key":"10.1074\/jbc.M116.756163_bib27","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1093\/hmg\/6.7.1037","article-title":"Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease","volume":"6","author":"Grimes","year":"1997","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.M116.756163_bib28","doi-asserted-by":"crossref","first-page":"44079","DOI":"10.1074\/jbc.M208737200","article-title":"A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation","volume":"277","author":"Kim","year":"2002","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.756163_bib29","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1002\/humu.20190","article-title":"Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A","volume":"26","author":"M\u00f8ller","year":"2005","journal-title":"Hum. Mutat"},{"key":"10.1074\/jbc.M116.756163_bib30","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/9.13.1927","article-title":"Copper-dependent trafficking of Wilson disease mutant ATP7B proteins","volume":"9","author":"Forbes","year":"2000","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.M116.756163_bib31","doi-asserted-by":"crossref","first-page":"E1364","DOI":"10.1073\/pnas.1314161111","article-title":"Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B","volume":"111","author":"Braiterman","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U.S.A"},{"key":"10.1074\/jbc.M116.756163_bib32","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1053\/gast.2003.50066","article-title":"Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines","volume":"124","author":"Huster","year":"2003","journal-title":"Gastroenterology"},{"key":"10.1074\/jbc.M116.756163_bib33","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ymgme.2008.06.015","article-title":"Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R","volume":"95","author":"Tang","year":"2008","journal-title":"Mol. Genet. Metab"},{"key":"10.1074\/jbc.M116.756163_bib34","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1086\/302163","article-title":"Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?","volume":"63","author":"Forbes","year":"1998","journal-title":"Am. J. Hum. Genet"},{"key":"10.1074\/jbc.M116.756163_bib35","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1002\/hep.23209","article-title":"Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin","volume":"50","author":"van den Berghe","year":"2009","journal-title":"Hepatology"},{"key":"10.1074\/jbc.M116.756163_bib36","doi-asserted-by":"crossref","first-page":"13302","DOI":"10.1074\/jbc.M300034200","article-title":"The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B","volume":"278","author":"Tsivkovskii","year":"2003","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.756163_bib37","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/mds.20671","article-title":"p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease","volume":"21","author":"Gromadzka","year":"2006","journal-title":"Movement Disord"},{"key":"10.1074\/jbc.M116.756163_bib38","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1093\/hmg\/ddr612","article-title":"Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy","volume":"21","author":"Yi","year":"2012","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.M116.756163_bib39","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/S1471-4914(01)01920-7","article-title":"The molecular basis of copper-transport diseases","volume":"7","author":"Mercer","year":"2001","journal-title":"Trends Mol. Med"},{"key":"10.1074\/jbc.M116.756163_bib40","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ng1094-195","article-title":"Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus","volume":"8","author":"Kaler","year":"1994","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.M116.756163_bib41","doi-asserted-by":"crossref","first-page":"2762","DOI":"10.1093\/jn\/135.12.2762","article-title":"Copper exposure induces trafficking of the Menkes protein in intestinal epithelium of ATP7A transgenic mice","volume":"135","author":"Monty","year":"2005","journal-title":"J. Nutr"},{"key":"10.1074\/jbc.M116.756163_bib42","doi-asserted-by":"crossref","first-page":"G1181","DOI":"10.1152\/ajpgi.00472.2006","article-title":"Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites","volume":"292","author":"Nyasae","year":"2007","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol"},{"key":"10.1074\/jbc.M116.756163_bib43","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/sj.emboj.7601543","article-title":"Copper homeostasis in Drosophila by complex interplay of import, storage and behavioral avoidance","volume":"26","author":"Balamurugan","year":"2007","journal-title":"EMBO J"},{"key":"10.1074\/jbc.M116.756163_bib44","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/j.devcel.2014.04.033","article-title":"Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis","volume":"29","author":"Polishchuk","year":"2014","journal-title":"Dev. Cell"},{"key":"10.1074\/jbc.M116.756163_bib45","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1007\/s00775-015-1281-3","article-title":"Elemental mapping of the entire intact Drosophila gastrointestinal tract","volume":"20","author":"Jones","year":"2015","journal-title":"J. Biol. Inorg. Chem"},{"key":"10.1074\/jbc.M116.756163_bib46","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s10534-013-9686-3","article-title":"In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure","volume":"27","author":"Squitti","year":"2014","journal-title":"Biometals"}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925820413857?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925820413857?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1074\/jbc.M116.756163","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,18]],"date-time":"2021-12-18T08:43:12Z","timestamp":1639816992000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925820413857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":46,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["S0021925820413857"],"URL":"https:\/\/doi.org\/10.1074\/jbc.m116.756163","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2017,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1074\/jbc.M116.756163","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 ASBMB. Currently published by Elsevier Inc; originally published by American Society for Biochemistry and Molecular Biology.","name":"copyright","label":"Copyright"}]}}