{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:16:09Z","timestamp":1791062169894,"version":"4.1.0"},"reference-count":63,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T00:00:00Z","timestamp":1033430400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HL41536"],"award-info":[{"award-number":["HL41536"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Seminars in Hematology"],"published-print":{"date-parts":[[2002,10]]},"DOI":"10.1053\/shem.2002.35633","type":"journal-article","created":{"date-parts":[[2002,10,16]],"date-time":"2002-10-16T15:29:21Z","timestamp":1034782161000},"page":"282-289","source":"Crossref","is-referenced-by-count":65,"title":["The copper-iron connection: Hereditary aceruloplasminemia"],"prefix":"10.1053","volume":"39","author":[{"given":"Thalia","family":"Nittis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan D.","family":"Gitlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/shem.2002.35633_bib1","doi-asserted-by":"crossref","first-page":"19906","DOI":"10.1074\/jbc.M000713200","article-title":"A novel mammalian iron-regulated protein involved in intracellular iron metabolism","volume":"275","author":"Abboud","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib2","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/0092-8674(94)90346-8","article-title":"The FET3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake","volume":"76","author":"Askwith","year":"1994","journal-title":"Cell"},{"key":"10.1053\/shem.2002.35633_NEWBIB1","doi-asserted-by":"crossref","first-page":"6183","DOI":"10.1016\/S0021-9258(18)83330-0","article-title":"Presence of coupled trinuclear copper cluster in mammalian ceruloplasmin is essential for efficient electron transfer to oxygen","volume":"264","author":"Calabrese","year":"1989","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib4","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/0002-9343(60)90150-9","article-title":"Studies on copper metabolism. XXIX","volume":"28","author":"Cartwright","year":"1960","journal-title":"Am J Med"},{"key":"10.1053\/shem.2002.35633_bib5","first-page":"893","article-title":"Factors influencing serum ceruloplasmin levels in normal individuals","volume":"68","author":"Cox","year":"1966","journal-title":"J Lab Clin Med"},{"key":"10.1053\/shem.2002.35633_bib6","doi-asserted-by":"crossref","first-page":"3457","DOI":"10.1073\/pnas.84.10.3457","article-title":"Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: A rodent model for hemochromatosis","volume":"84","author":"Craven","year":"1987","journal-title":"Proc Natl Acad Sci"},{"key":"10.1053\/shem.2002.35633_bib7","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/ng571","article-title":"Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease","volume":"28","author":"Curtis","year":"2001","journal-title":"Nat Genet"},{"key":"10.1053\/shem.2002.35633_bib8","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1006\/bbrc.1995.1437","article-title":"Fine structure of the human ceruloplasmin gene","volume":"208","author":"Daimon","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1053\/shem.2002.35633_bib9","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1006\/bbrc.1995.2749","article-title":"A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus","volume":"217","author":"Daimon","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1053\/shem.2002.35633_bib10","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s002340050730","article-title":"Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain","volume":"41","author":"Daimon","year":"1999","journal-title":"Neurorad"},{"key":"10.1053\/shem.2002.35633_bib11","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1620\/tjem.191.119","article-title":"A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM)","volume":"191","author":"Daimon","year":"2000","journal-title":"Tohoku J Exp Med"},{"key":"10.1053\/shem.2002.35633_NEWBIB2","doi-asserted-by":"crossref","first-page":"13641","DOI":"10.1073\/pnas.95.23.13641","article-title":"Chloride is an allosteric effector of copper assembly for the yeast multicopper oxidase Fet3p: An unexpected role for intracellular chloride channels","volume":"95","author":"Davis-Kaplan","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/shem.2002.35633_bib13","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/35001596","article-title":"Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter","volume":"403","author":"Donovan","year":"2000","journal-title":"Nature"},{"key":"10.1053\/shem.2002.35633_bib14","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1111\/j.1399-0004.1979.tb01740.x","article-title":"Hereditary hypoceruloplasminemia","volume":"15","author":"Edwards","year":"1979","journal-title":"Clin Genet"},{"key":"10.1053\/shem.2002.35633_bib15","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1095\/biolreprod61.4.1042","article-title":"Glycosyl phosphatidylinositol-anchored ceruloplasmin is expressed by rat Sertoli cells and is concentrated in detergent-insoluble membrane fractions","volume":"61","author":"Fortna","year":"1999","journal-title":"Biol Reprod"},{"key":"10.1053\/shem.2002.35633_bib16","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1038\/185693a0","article-title":"Turnover of the copper and protein moieties of ceruloplasmin","volume":"185","author":"Gitlin","year":"1960","journal-title":"Nature"},{"key":"10.1053\/shem.2002.35633_bib17","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1172\/JCI106109","volume":"48","author":"Gitlin","year":"1966","journal-title":"J Clin Invest"},{"key":"10.1053\/shem.2002.35633_bib18","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1042\/bj2820835","article-title":"Mechanisms of caeruloplasmin biosynthesis in normal and copper-deficient rats","volume":"282","author":"Gitlin","year":"1992","journal-title":"Biochem J"},{"key":"10.1053\/shem.2002.35633_bib19","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1073\/pnas.92.7.2539","article-title":"Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism","volume":"92","author":"Harris","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/shem.2002.35633_bib20","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/qjmed\/89.5.355","article-title":"Familial dementia due to a frameshift mutation in the ceruloplasmin gene","volume":"89","author":"Harris","year":"1996","journal-title":"Q J Med"},{"key":"10.1053\/shem.2002.35633_bib21","doi-asserted-by":"crossref","first-page":"10812","DOI":"10.1073\/pnas.96.19.10812","article-title":"Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux","volume":"96","author":"Harris","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1053\/shem.2002.35633_bib22","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1136\/gut.47.6.858","article-title":"Hepatic iron overload in aceruloplasminaemia","volume":"47","author":"Hellman","year":"2000","journal-title":"Gut"},{"key":"10.1053\/shem.2002.35633_bib23","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1074\/jbc.M109123200","article-title":"Biochemical analysis of a missense mutation in aceruloplasminemia","volume":"277","author":"Hellman","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib24","doi-asserted-by":"crossref","first-page":"550","DOI":"10.3891\/acta.chem.scand.02-0550","article-title":"Investigations in serum copper. II. Isolation of the copper-containing protein and a description of some of its properties","volume":"2","author":"Holmberg","year":"1948","journal-title":"Acta Chem Scand"},{"key":"10.1053\/shem.2002.35633_bib25","doi-asserted-by":"crossref","first-page":"2350","DOI":"10.1016\/S0021-9258(18)63158-8","article-title":"Identification of an apoceruloplasmin-like substance in the plasma of copper-deficient rats","volume":"245","author":"Holtzman","year":"1970","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib26","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.1016\/S0021-9258(18)63159-X","article-title":"Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma","volume":"245","author":"Holtzman","year":"1970","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib27","doi-asserted-by":"crossref","first-page":"21461","DOI":"10.1074\/jbc.272.34.21461","article-title":"Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae","volume":"272","author":"Hung","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib28","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1172\/JCI118768","article-title":"Ceruloplasmin gene expression in the murine central nervous system","volume":"98","author":"Klomp","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1053\/shem.2002.35633_bib29","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1093\/hmg\/5.12.1989","article-title":"Expression of the ceruloplasmin gene in the human retina and brain: Implications for a pathogenic model in aceruloplasminemia","volume":"5","author":"Klomp","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1053\/shem.2002.35633_bib30","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s100489900082","article-title":"Aceruloplasminemia with a novel mutation associated with parkinsonism","volume":"2","author":"Kohno","year":"2000","journal-title":"Neurogenetics"},{"key":"10.1053\/shem.2002.35633_bib31","doi-asserted-by":"crossref","first-page":"7760","DOI":"10.1021\/bi00398a034","article-title":"Isolation and characterization of a processed gene for human ceruloplasmin","volume":"26","author":"Koschinsky","year":"1987","journal-title":"Biochemistry"},{"key":"10.1053\/shem.2002.35633_bib32","doi-asserted-by":"crossref","first-page":"2058","DOI":"10.1172\/JCI105891","article-title":"Iron metabolism in copper-deficient swine","volume":"47","author":"Lee","year":"1968","journal-title":"J Clin Invest"},{"key":"10.1053\/shem.2002.35633_bib33","first-page":"663","article-title":"Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus","volume":"87","author":"Logan","year":"1994","journal-title":"Q J Med"},{"key":"10.1053\/shem.2002.35633_bib34","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S1097-2765(00)80425-6","article-title":"A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation","volume":"5","author":"McKie","year":"2000","journal-title":"Mol Cell"},{"key":"10.1053\/shem.2002.35633_bib35","doi-asserted-by":"crossref","first-page":"36857","DOI":"10.1074\/jbc.M105361200","article-title":"Copper transport and metabolism are normal in aceruloplasminemic mice","volume":"276","author":"Meyer","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib36","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1212\/WNL.37.5.761","article-title":"Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration","volume":"37","author":"Miyajima","year":"1987","journal-title":"Neurology"},{"key":"10.1053\/shem.2002.35633_bib37","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/0891-5849(95)02178-7","article-title":"Increased plasma lipid peroxidation in patients with aceruloplasminemia","volume":"20","author":"Miyajima","year":"1996","journal-title":"Free Radic Biol Med"},{"key":"10.1053\/shem.2002.35633_bib38","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/ana.410410318","article-title":"Use of desferrioxamine in the treatment of aceruloplasminemia","volume":"41","author":"Miyajima","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1053\/shem.2002.35633_bib39","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1212\/WNL.51.4.1188","article-title":"CSF abnormalities in patients with aceruloplasminemia","volume":"51","author":"Miyajima","year":"1998","journal-title":"Neurology"},{"key":"10.1053\/shem.2002.35633_bib40","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1212\/WNL.50.1.130","article-title":"Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia","volume":"50","author":"Miyajima","year":"1998","journal-title":"Neurology"},{"key":"10.1053\/shem.2002.35633_bib41","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1212\/WNL.53.3.617","article-title":"Estimation of the gene frequency of aceruloplasminemia in Japan","volume":"53","author":"Miyajima","year":"1999","journal-title":"Neurology"},{"key":"10.1053\/shem.2002.35633_bib42","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1212\/WNL.57.12.2205","article-title":"Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation","volume":"57","author":"Miyajima","year":"2001","journal-title":"Neurology"},{"key":"10.1053\/shem.2002.35633_bib43","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1093\/qjmed\/94.8.417","article-title":"Increased oxysterols associated with iron accumulation in the brains and visceral organs of acaeruloplasminaemia patients","volume":"94","author":"Miyajima","year":"2001","journal-title":"Q J Med"},{"key":"10.1053\/shem.2002.35633_bib44","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1172\/JCI200113468","article-title":"Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene","volume":"108","author":"Montosi","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1053\/shem.2002.35633_bib45","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1002\/ana.410370515","article-title":"Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family","volume":"37","author":"Morita","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1053\/shem.2002.35633_bib46","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/90038","article-title":"Mutation in SLC11A3 is associated with autosomal dominant hemochromatosis","volume":"28","author":"Njajou","year":"2001","journal-title":"Nat Genet"},{"key":"10.1053\/shem.2002.35633_bib47","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/BF02346185","article-title":"Hereditary ceruloplasmin deficiency with hemosiderosis","volume":"97","author":"Okamoto","year":"1996","journal-title":"Hum Genet"},{"key":"10.1053\/shem.2002.35633_bib48","doi-asserted-by":"crossref","first-page":"2746","DOI":"10.1016\/S0021-9258(18)96527-0","article-title":"The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum","volume":"241","author":"Osaki","year":"1966","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib49","doi-asserted-by":"crossref","first-page":"3018","DOI":"10.1016\/S0021-9258(18)62284-7","article-title":"The mobilization of iron from the perfused mammalian liver by a serum copper enzyme, ferroxidase","volume":"246","author":"Osaki","year":"1971","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib50","doi-asserted-by":"crossref","first-page":"20185","DOI":"10.1074\/jbc.272.32.20185","article-title":"A novel glycosylphosphatidylinositol-anchored form of ceruloplasmin is expressed by mammalian astrocytes","volume":"272","author":"Patel","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib51","doi-asserted-by":"crossref","first-page":"4305","DOI":"10.1074\/jbc.275.6.4305","article-title":"Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain","volume":"275","author":"Patel","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib52","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1172\/JCI106460","article-title":"The role of ceruloplasmin in iron metabolism","volume":"49","author":"Roeser","year":"1970","journal-title":"J Clin Invest"},{"key":"10.1053\/shem.2002.35633_bib53","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/(SICI)1097-4547(19981015)54:2<147::AID-JNR3>3.0.CO;2-E","article-title":"Ran-2, a glial lineage marker, is a GPI-anchored form of ceruloplasmin","volume":"54","author":"Salzer","year":"1998","journal-title":"J Neurosci Res"},{"key":"10.1053\/shem.2002.35633_bib54","doi-asserted-by":"crossref","first-page":"5128","DOI":"10.1016\/S0021-9258(19)67764-1","article-title":"Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin","volume":"266","author":"Sato","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1053\/shem.2002.35633_bib55","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":"10.1053\/shem.2002.35633_bib56","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1126\/science.116.3018.484","article-title":"Deficiency of ceruloplasmin in patients with hepatolenticular degeneration","volume":"116","author":"Scheinberg","year":"1952","journal-title":"Science"},{"key":"10.1053\/shem.2002.35633_bib57","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1126\/science.271.5255.1552","article-title":"A permease-oxidase complex involved in high-affinity iron uptake in yeast","volume":"271","author":"Stearman","year":"1996","journal-title":"Science"},{"key":"10.1053\/shem.2002.35633_bib58","first-page":"81","article-title":"Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease","volume":"51","author":"Takahashi","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1053\/shem.2002.35633_bib59","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/5979","article-title":"Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse","volume":"21","author":"Vulpe","year":"1999","journal-title":"Nat Genet"},{"key":"10.1053\/shem.2002.35633_bib60","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/S0022-510X(98)00015-X","article-title":"A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis","volume":"156","author":"Yazaki","year":"1998","journal-title":"J Neurol Sci"},{"key":"10.1053\/shem.2002.35633_bib61","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1159\/000008091","article-title":"A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma","volume":"42","author":"Yonekawa","year":"1999","journal-title":"Eur Neurol"},{"key":"10.1053\/shem.2002.35633_bib62","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/ng0395-267","article-title":"A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans","volume":"9","author":"Yoshida","year":"1995","journal-title":"Nat Genet"},{"key":"10.1053\/shem.2002.35633_bib63","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/S0022-510X(00)00295-1","article-title":"Increased lipid peroxidation in the brains of aceruloplasminemia patients","volume":"175","author":"Yoshida","year":"2000","journal-title":"J Neurol Sci"}],"container-title":["Seminars in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0037196302500718?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0037196302500718?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,12,5]],"date-time":"2021-12-05T16:34:32Z","timestamp":1638722072000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0037196302500718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10]]},"references-count":63,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["S0037196302500718"],"URL":"https:\/\/doi.org\/10.1053\/shem.2002.35633","relation":{},"ISSN":["0037-1963"],"issn-type":[{"value":"0037-1963","type":"print"}],"subject":[],"published":{"date-parts":[[2002,10]]}}}