{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:47:25Z","timestamp":1791978445308,"version":"4.4.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"25","license":[{"start":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T00:00:00Z","timestamp":1464739200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T00:00:00Z","timestamp":1598572800000},"content-version":"vor","delay-in-days":1549,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP-81327"],"award-info":[{"award-number":["MOP-81327"]}],"id":[{"id":"10.13039\/501100000024","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":[[2016,6]]},"DOI":"10.1074\/jbc.m116.728824","type":"journal-article","created":{"date-parts":[[2016,4,26]],"date-time":"2016-04-26T02:24:29Z","timestamp":1461637469000},"page":"13113-13123","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism"],"prefix":"10.1016","volume":"291","author":[{"given":"Ali H.","family":"Jalloul","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana P.","family":"Rogasevskaia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert T.","family":"Szerencsei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul P.M.","family":"Schnetkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1074\/jbc.M116.728824_bib1","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/j.1432-1033.1995.tb20535.x","article-title":"Calbindin28kDa and calmodulin are hyperabundant in rat dental enamel cells. Identification of the protein phosphatase calcineurin as a principal calmodulin target and of a secretion-related role for calbindin28kDa","volume":"230","author":"Hubbard","year":"1995","journal-title":"Eur. J. Biochem"},{"key":"10.1074\/jbc.M116.728824_bib2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1177\/10454411000110040401","article-title":"Calcium transport across the dental enamel epithelium","volume":"11","author":"Hubbard","year":"2000","journal-title":"Crit. Rev. Oral Biol. Med"},{"key":"10.1074\/jbc.M116.728824_bib3","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","article-title":"CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism","volume":"119","author":"Splawski","year":"2004","journal-title":"Cell"},{"key":"10.1074\/jbc.M116.728824_bib4","doi-asserted-by":"crossref","first-page":"94S","DOI":"10.1177\/0022034514527971","article-title":"STIM1 and SLC24A4 are critical for enamel maturation","volume":"93","author":"Wang","year":"2014","journal-title":"J. Dent. Res"},{"key":"10.1074\/jbc.M116.728824_bib5","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1056\/NEJMoa0900082","article-title":"STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity","volume":"360","author":"Picard","year":"2009","journal-title":"N. Engl. J. Med"},{"key":"10.1074\/jbc.M116.728824_bib6","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1177\/0022034512470954","article-title":"New paradigms on the transport functions of maturation-stage ameloblasts","volume":"92","author":"Lacruz","year":"2013","journal-title":"J. Dent. Res"},{"key":"10.1074\/jbc.M116.728824_bib7","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1042\/BJ20070619","article-title":"Na+\/Ca2+ exchangers: three mammalian gene families control Ca2+ transport","volume":"406","author":"Lytton","year":"2007","journal-title":"Biochem. J"},{"key":"10.1074\/jbc.M116.728824_bib8","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.mam.2012.07.008","article-title":"The SLC24 gene family of Na+\/Ca2+-K+ exchangers: from sight and smell to memory consolidation and skin pigmentation","volume":"34","author":"Schnetkamp","year":"2013","journal-title":"Mol. Aspects Med"},{"key":"10.1074\/jbc.M116.728824_bib9","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1254\/jphs.09267FP","article-title":"Sodium-calcium exchangers in rat ameloblasts","volume":"112","author":"Okumura","year":"2010","journal-title":"J. Pharmacol. Sci"},{"key":"10.1074\/jbc.M116.728824_bib10","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1159\/000337493","article-title":"Expression of the sodium\/calcium\/potassium exchanger, NCKX4, in ameloblasts","volume":"196","author":"Hu","year":"2012","journal-title":"Cells Tissues Organs"},{"key":"10.1074\/jbc.M116.728824_bib11","doi-asserted-by":"crossref","first-page":"e77","DOI":"10.1016\/j.oooo.2014.09.003","article-title":"Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation","volume":"119","author":"Herzog","year":"2015","journal-title":"Oral Surg. Oral Med. Oral Pathol. Oral Radiol"},{"key":"10.1074\/jbc.M116.728824_bib12","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ajhg.2013.01.003","article-title":"Identification of mutations in SLC24A4, encoding a potassium-dependent sodium\/calcium exchanger, as a cause of amelogenesis imperfecta","volume":"92","author":"Parry","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"10.1074\/jbc.M116.728824_bib13","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1177\/0022034514523786","article-title":"Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta","volume":"93","author":"Seymen","year":"2014","journal-title":"J. Dent. Res"},{"key":"10.1074\/jbc.M116.728824_bib14","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1038\/nn.2943","article-title":"The Na+\/Ca2+ exchanger NCKX4 governs termination and adaptation of the mammalian olfactory response","volume":"15","author":"Stephan","year":"2012","journal-title":"Nat. Neurosci"},{"key":"10.1074\/jbc.M116.728824_bib15","doi-asserted-by":"crossref","first-page":"25445","DOI":"10.1074\/jbc.M114.564450","article-title":"An essential role for the K+-dependent Na+\/Ca2+-exchanger, NCKX4, in melanocortin-4-receptor-dependent satiety","volume":"289","author":"Li","year":"2014","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.728824_bib16","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1038\/ng.2007.13","article-title":"Genetic determinants of hair, eye and skin pigmentation in Europeans","volume":"39","author":"Sulem","year":"2007","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.M116.728824_bib17","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/jhg.2011.38","article-title":"Gene-gene interactions contribute to eye colour variation in humans","volume":"56","author":"Po\u015bpiech","year":"2011","journal-title":"J. Hum. Genet"},{"key":"10.1074\/jbc.M116.728824_bib18","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1126\/science.1116238","article-title":"SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans","volume":"310","author":"Lamason","year":"2005","journal-title":"Science"},{"key":"10.1074\/jbc.M116.728824_bib19","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1086\/522235","article-title":"A genomewide association study of skin pigmentation in a South Asian population","volume":"81","author":"Stokowski","year":"2007","journal-title":"Am. J. Hum. Genet"},{"key":"10.1074\/jbc.M116.728824_bib20","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/jid.2013.360","article-title":"SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism","volume":"134","author":"Morice-Picard","year":"2014","journal-title":"J. Investig. Dermatol"},{"key":"10.1074\/jbc.M116.728824_bib21","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/pcmr.12425","article-title":"Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana","volume":"29","author":"Bertolotti","year":"2016","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1074\/jbc.M116.728824_bib22","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1523\/JNEUROSCI.3920-12.2013","article-title":"Mutation of a NCKX eliminates glial microdomain calcium oscillations and enhances seizure susceptibility","volume":"33","author":"Melom","year":"2013","journal-title":"J. Neurosci"},{"key":"10.1074\/jbc.M116.728824_bib23","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/B978-0-12-800223-0.00007-4","article-title":"The SLC24 family of K+-dependent Na+-Ca2+ exchangers: structure-function relationships","volume":"73","author":"Schnetkamp","year":"2014","journal-title":"Curr. Top. Membr"},{"key":"10.1074\/jbc.M116.728824_bib24","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.ceca.2004.01.021","article-title":"Molecular characterization, functional expression and tissue distribution of a second NCKX Na+\/Ca2+-K+ exchanger from Drosophila","volume":"36","author":"Winkfein","year":"2004","journal-title":"Cell Calcium"},{"key":"10.1074\/jbc.M116.728824_bib25","doi-asserted-by":"crossref","first-page":"48410","DOI":"10.1074\/jbc.M210011200","article-title":"Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4","volume":"277","author":"Li","year":"2002","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.728824_bib26","doi-asserted-by":"crossref","first-page":"3135","DOI":"10.1021\/pr060363j","article-title":"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes","volume":"5","author":"Chi","year":"2006","journal-title":"J. Proteome Res"},{"key":"10.1074\/jbc.M116.728824_bib27","doi-asserted-by":"crossref","first-page":"5486","DOI":"10.1074\/jbc.M707521200","article-title":"SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis","volume":"283","author":"Ginger","year":"2008","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.728824_bib28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ceca.2015.11.001","article-title":"Cation dependencies and turnover rates of the human K+-dependent Na+-Ca2+ exchangers NCKX1, NCKX2, NCKX3 and NCKX4","volume":"59","author":"Jalloul","year":"2016","journal-title":"Cell Calcium"},{"key":"10.1074\/jbc.M116.728824_bib29","doi-asserted-by":"crossref","first-page":"2485","DOI":"10.1021\/bi0270788","article-title":"Topology of the retinal cone NCKX2 Na\/Ca-K exchanger","volume":"42","author":"Kinjo","year":"2003","journal-title":"Biochemistry"},{"key":"10.1074\/jbc.M116.728824_bib30","doi-asserted-by":"crossref","first-page":"109","DOI":"10.4161\/chan.23898","article-title":"The topology of the C-terminal sections of the NCX1 Na+ \/Ca2+ exchanger and the NCKX2 Na+\/Ca2+-K+ exchanger","volume":"7","author":"Szerencsei","year":"2013","journal-title":"Channels"},{"key":"10.1074\/jbc.M116.728824_bib31","doi-asserted-by":"crossref","first-page":"C153","DOI":"10.1152\/ajpcell.1989.257.1.C153","article-title":"Na-Ca exchange in the outer segments of bovine rod photoreceptors requires and transports potassium","volume":"257","author":"Schnetkamp","year":"1989","journal-title":"Am. J. Physiol. Cell Physiol"},{"key":"10.1074\/jbc.M116.728824_bib32","doi-asserted-by":"crossref","first-page":"25919","DOI":"10.1074\/jbc.M103401200","article-title":"Electrophysiological characterization and ionic stoichiometry of the rat brain K+-dependent Na+\/Ca2+ exchanger, NCKX2","volume":"276","author":"Dong","year":"2001","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.728824_bib33","doi-asserted-by":"crossref","first-page":"6009","DOI":"10.1021\/bi0102353","article-title":"The stoichiometry of the retinal cone Na\/Ca-K exchanger heterologously expressed in insect cells: comparison with the bovine heart Na\/Ca exchanger","volume":"40","author":"Szerencsei","year":"2001","journal-title":"Biochemistry"},{"key":"10.1074\/jbc.M116.728824_bib34","doi-asserted-by":"crossref","first-page":"6823","DOI":"10.1074\/jbc.M407933200","article-title":"Residues contributing to the Ca2+ and K+ binding pocket of the NCKX2 Na+\/Ca2+-K+ exchanger","volume":"280","author":"Kang","year":"2005","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.728824_bib35","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1021\/bi026982x","article-title":"Scanning mutagenesis of the \u03b1 repeats and of the transmembrane acidic residues of the human retinal cone Na\/Ca-K exchanger","volume":"42","author":"Winkfein","year":"2003","journal-title":"Biochemistry"},{"key":"10.1074\/jbc.M116.728824_bib36","doi-asserted-by":"crossref","first-page":"9438","DOI":"10.1021\/bi0342261","article-title":"Signal sequence cleavage and plasma membrane targeting of the rod NCKX1 and cone NCKX2 Na+\/Ca2+-K+ exchangers","volume":"42","author":"Kang","year":"2003","journal-title":"Biochemistry"},{"key":"10.1074\/jbc.M116.728824_bib37","doi-asserted-by":"crossref","first-page":"4593","DOI":"10.1021\/bi027276z","article-title":"Assembly of Retinal Rod or Cone Na+\/Ca2+-K+ exchangers oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs","volume":"42","author":"Kang","year":"2003","journal-title":"Biochemistry"},{"key":"10.1074\/jbc.M116.728824_bib38","doi-asserted-by":"crossref","first-page":"3720","DOI":"10.1074\/jbc.M609285200","article-title":"Na+-dependent inactivation of the retinal cone\/brain Na+\/Ca2+-K+ exchanger NCKX2","volume":"282","author":"Altimimi","year":"2007","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.728824_bib39","doi-asserted-by":"crossref","first-page":"15245","DOI":"10.1074\/jbc.M109.090738","article-title":"Residues contributing to the Na+-binding pocket of the SLC24 Na+\/Ca2+-K+ exchanger NCKX2","volume":"285","author":"Altimimi","year":"2010","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.M116.728824_bib40","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1126\/science.1215759","article-title":"Structural insight into the ion-exchange mechanism of the sodium\/calcium exchanger","volume":"335","author":"Liao","year":"2012","journal-title":"Science"}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925820394552?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925820394552?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1074\/jbc.M116.728824","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T09:58:32Z","timestamp":1641290312000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925820394552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":40,"journal-issue":{"issue":"25","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["S0021925820394552"],"URL":"https:\/\/doi.org\/10.1074\/jbc.m116.728824","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1074\/jbc.M116.728824","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 ASBMB. Currently published by Elsevier Inc; originally published by American Society for Biochemistry and Molecular Biology.","name":"copyright","label":"Copyright"}]}}