{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:25:27Z","timestamp":1767828327975,"version":"3.49.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2006,4,1]],"date-time":"2006-04-01T00:00:00Z","timestamp":1143849600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T00:00:00Z","timestamp":1374105600000},"content-version":"vor","delay-in-days":2665,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2006,4]]},"DOI":"10.1016\/j.bbadis.2005.12.011","type":"journal-article","created":{"date-parts":[[2006,2,4]],"date-time":"2006-02-04T15:52:58Z","timestamp":1139068378000},"page":"485-493","source":"Crossref","is-referenced-by-count":18,"title":["Correction of a mouse model of Menkes disease by the human Menkes gene"],"prefix":"10.1016","volume":"1762","author":[{"given":"Roxana M.","family":"Llanos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bi-Xia","family":"Ke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magali","family":"Wright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yolanda","family":"Deal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francois","family":"Monty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian F.B.","family":"Mercer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2005.12.011_bib1","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":"10.1016\/j.bbadis.2005.12.011_bib2","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1038\/ng0494-374","article-title":"Mutations in the murine homologue of the Menkes disease gene in dappled and blotchy mice","volume":"6","author":"Mercer","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbadis.2005.12.011_bib3","series-title":"Handbook of Mouse Mutations with Skin and Hair Abnormalities","first-page":"359","article-title":"The mottled locus: Mottled (Mo), Blotchy (Moblo), Brindled (Mobr), Dappled (Modp), Mosaic (Moms), Tortoiseshell (Moto), and Viable Brindled (Movbr) mutations, chromosome X","author":"Sundberg","year":"1994"},{"key":"10.1016\/j.bbadis.2005.12.011_bib4","series-title":"Genetic Variants and Strains of the Laboratory Mouse","first-page":"241","article-title":"Mo locus, Chr X","author":"Lyon","year":"1990"},{"key":"10.1016\/j.bbadis.2005.12.011_bib5","first-page":"2211","article-title":"Disorders of copper transport","volume":"vol. 1","author":"Danks","year":"1995"},{"key":"10.1016\/j.bbadis.2005.12.011_bib6","first-page":"123","article-title":"Understanding the mechanism and function of copper P-type ATPases","volume":"vol. 60","author":"Voskoboinik","year":"2002"},{"key":"10.1016\/j.bbadis.2005.12.011_bib7","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1042\/bj1860629","article-title":"Copper metabolism in mottled mouse mutants: defective placental transfer of Cu-64 to foetal brindled (Mobr) mice","volume":"186","author":"Mann","year":"1980","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbadis.2005.12.011_bib8","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1093\/hmg\/6.7.1037","article-title":"Molecular basis of the brindled mouse mutant (Mobr): a murine model of Menkes disease","volume":"6","author":"Grimes","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2005.12.011_bib9","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1042\/bj1800613","article-title":"Copper metabolism in mottled mouse mutants. Distribution of 64Cu in brindled mice","volume":"180","author":"Mann","year":"1979","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbadis.2005.12.011_bib10","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<154::AID-AJMG9>3.0.CO;2-T","article-title":"Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients","volume":"76","author":"Christodoulou","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbadis.2005.12.011_bib11","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1007\/BF00711911","article-title":"Recent developments in Menkes disease","volume":"16","author":"Kodama","year":"1993","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbadis.2005.12.011_bib12","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1023\/A:1005383114315","article-title":"Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease","volume":"21","author":"Murata","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbadis.2005.12.011_bib13","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/0014-5793(94)00868-X","article-title":"Expression of the Menkes gene homologue in mouse tissues: lack of effect of copper on the mRNA levels","volume":"351","author":"Paynter","year":"1994","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbadis.2005.12.011_bib14","first-page":"828","article-title":"Genes of the copper pathway","volume":"56","author":"Cox","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2005.12.011_bib15","doi-asserted-by":"crossref","unstructured":"B.-X. Ke, R.M. Llanos, M. Wright, Y. Deal, J.F.B. Mercer, Alteration of copper physiology in mice overexpressing the human Menkes protein, Am. J. Physiol. (in press).","DOI":"10.1152\/ajpregu.00806.2005"},{"key":"10.1016\/j.bbadis.2005.12.011_bib16","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1093\/hmg\/7.8.1293","article-title":"Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHOK1)","volume":"7","author":"La Fontaine","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2005.12.011_bib17","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","volume":"135","author":"Monty","year":"2005","journal-title":"J. Nutr."},{"key":"10.1016\/j.bbadis.2005.12.011_bib18","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/0925-4439(91)90036-9","article-title":"Developmental variation in copper, zinc metallothionein mRNA in brindled mutant and nutritionally copper deficient mice","volume":"1097","author":"Mercer","year":"1991","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbadis.2005.12.011_bib19","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1042\/bj1800597","article-title":"Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development","volume":"180","author":"Camakaris","year":"1979","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbadis.2005.12.011_bib20","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/0024-3205(79)90028-6","article-title":"Trace element binding in the copper deficient mottled mutants in the mouse","volume":"24","author":"Hunt","year":"1979","journal-title":"Life Sci."},{"key":"10.1016\/j.bbadis.2005.12.011_bib21","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00504364","article-title":"Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants","volume":"18","author":"Camakaris","year":"1980","journal-title":"Biochem. Genet."},{"key":"10.1016\/j.bbadis.2005.12.011_bib22","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/genetics\/158.1.341","article-title":"Sequence and chromosomal context effects on variegated expression of keratin 5\/lacZ constructs in stratified epithelia of transgenic mice","volume":"158","author":"Ramirez","year":"2001","journal-title":"Genetics"},{"key":"10.1016\/j.bbadis.2005.12.011_bib23","doi-asserted-by":"crossref","first-page":"6659","DOI":"10.1073\/pnas.93.13.6659","article-title":"Variegated transgene expression in mouse mammary gland is determined by the transgene integration locus","volume":"93","author":"Dobie","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbadis.2005.12.011_bib24","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S0014-5793(97)00313-X","article-title":"\u201cGreen mice\u201d as a source of ubiquitous green cells","volume":"407","author":"Okabe","year":"1997","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbadis.2005.12.011_bib25","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1042\/BJ20040419","article-title":"Characterization of transgenic mice with widespread overexpression of spermine synthase","volume":"381","author":"Ikeguchi","year":"2004","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbadis.2005.12.011_bib26","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ar.a.10111","article-title":"Morphologic characterization of green fluorescent protein in embryonic, neonatal, and adult transgenic rats","volume":"274","author":"Takeuchi","year":"2003","journal-title":"Anat. Rec. A Discov. Mol. Cell Evol. Biol."},{"key":"10.1016\/j.bbadis.2005.12.011_bib27","doi-asserted-by":"crossref","first-page":"6084","DOI":"10.1002\/j.1460-2075.1996.tb00997.x","article-title":"Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking","volume":"15","author":"Petris","year":"1996","journal-title":"EMBO J."},{"key":"10.1016\/j.bbadis.2005.12.011_bib28","doi-asserted-by":"crossref","first-page":"31375","DOI":"10.1074\/jbc.273.47.31375","article-title":"Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases","volume":"273","author":"La Fontaine","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2005.12.011_bib29","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1093\/hmg\/4.11.2117","article-title":"Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux","volume":"4","author":"Camakaris","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2005.12.011_bib30","doi-asserted-by":"crossref","first-page":"C1463","DOI":"10.1152\/ajpcell.00179.2004","article-title":"Signals regulating trafficking of the Menkes (MNK; ATP7A) copper translocating P-type ATPase in polarized MDCK Cells","volume":"287","author":"Greenough","year":"2004","journal-title":"Am. J. Physiol.: Cell Physiol."},{"key":"10.1016\/j.bbadis.2005.12.011_bib31","first-page":"G639","article-title":"Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver","volume":"276","author":"Schaefer","year":"1999","journal-title":"Am. J. Physiol."},{"key":"10.1016\/j.bbadis.2005.12.011_bib32","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1016\/S0016-5085(99)70288-X","article-title":"Localization of the Wilson's disease protein in human liver","volume":"117","author":"Schaefer","year":"1999","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bbadis.2005.12.011_bib33","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1046\/j.1442-200x.1999.01091.x","article-title":"Molecular genetics and pathophysiology of Menkes disease","volume":"41","author":"Kodama","year":"1999","journal-title":"Pediatr. Int."},{"key":"10.1016\/j.bbadis.2005.12.011_bib34","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1007\/s004010050455","article-title":"Localization of Menkes gene expression in the mouse brain: its association with neurological manifestations in Menkes and model mice","volume":"91","author":"Iwase","year":"1996","journal-title":"Acta Neuropathol. (Berlin)"},{"key":"10.1016\/j.bbadis.2005.12.011_bib35","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1203\/00006450-199710000-00003","article-title":"Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease","volume":"42","author":"Murata","year":"1997","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.bbadis.2005.12.011_bib36","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1159\/000064075","article-title":"Expression in mouse kidney of membrane copper transporters Atp7a and Atp7b","volume":"92","author":"Moore","year":"2002","journal-title":"Nephron"},{"key":"10.1016\/j.bbadis.2005.12.011_bib37","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1128\/MMBR.62.2.362-378.1998","article-title":"Regulation of X-chromosome inactivation in development in mice and humans","volume":"62","author":"Goto","year":"1998","journal-title":"Microbiol. Mol. Biol. Rev."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443905002085?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443905002085?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T14:33:38Z","timestamp":1627050818000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443905002085"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4]]},"references-count":37,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["S0925443905002085"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2005.12.011","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2006,4]]}}}