{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T17:57:16Z","timestamp":1791482236903,"version":"4.3.4"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Spanish Ministry of Economy and Competitiveness","award":["IPT-2011-0817-010000"],"award-info":[{"award-number":["IPT-2011-0817-010000"]}]},{"name":"Spanish Ministerio de Ciencia y Tecnolog\u00eda","award":["BFU 2012\u201336241"],"award-info":[{"award-number":["BFU 2012\u201336241"]}]}],"content-domain":{"domain":["atherosclerosis-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Atherosclerosis"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1016\/j.atherosclerosis.2014.12.026","type":"journal-article","created":{"date-parts":[[2014,12,20]],"date-time":"2014-12-20T12:44:22Z","timestamp":1419079462000},"page":"304-312","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats"],"prefix":"10.1016","volume":"238","author":[{"given":"A.","family":"Etxebarria","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Benito-Vicente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Stef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ostolaza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Palacios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib1","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"2863","article-title":"Familial hypercholesterolemia","author":"Goldstein","year":"2001"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib2","doi-asserted-by":"crossref","first-page":"3956","DOI":"10.1210\/jc.2012-1563","article-title":"Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication","volume":"97","author":"Benn","year":"2012","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib3","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.1093\/eurheartj\/eht273","article-title":"Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society","volume":"34","author":"Nordestgaard","year":"2013","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib4","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0092-8674(84)90188-0","article-title":"The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA","volume":"39","author":"Yamamoto","year":"1984","journal-title":"Cell"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib5","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1126\/science.3513311","article-title":"A\u00a0receptor-mediated pathway for cholesterol homeostasis","volume":"232","author":"Brown","year":"1986","journal-title":"Science"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib6","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1126\/science.1078124","article-title":"Structure of the LDL receptor extracellular domain at endosomal pH","volume":"298","author":"Rudenko","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib7","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1469-1809.2008.00436.x","article-title":"Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database","volume":"72","author":"Leigh","year":"2008","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib8","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1146\/annurev.ge.24.120190.001025","article-title":"The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein","volume":"24","author":"Hobbs","year":"1990","journal-title":"Annu Rev. Genet."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib9","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/humu.21630","article-title":"Functional characterization of splicing and ligand-binding domain variants in the LDL receptor","volume":"33","author":"Etxebarria","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib10","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1002\/humu.21258","article-title":"Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia","volume":"31","author":"Huijgen","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib11","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.atherosclerosis.2011.12.021","article-title":"Molecular characterization of familial hypercholesterolemia in Spain","volume":"221","author":"Palacios","year":"2012","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib12","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1055\/s-0037-1613809","article-title":"Homocysteine and oxidized low density lipoprotein enhanced platelet adhesion to endothelial cells under flow conditions: distinct mechanisms of thrombogenic modulation","volume":"83","author":"Dardik","year":"2000","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib13","doi-asserted-by":"crossref","first-page":"13282","DOI":"10.1016\/S0021-9258(18)37702-0","article-title":"Mutational analysis of the ligand binding domain of the low density lipoprotein receptor","volume":"263","author":"Esser","year":"1988","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib14","doi-asserted-by":"crossref","first-page":"5153","DOI":"10.1016\/S0021-9258(19)42341-7","article-title":"Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia","volume":"249","author":"Goldstein","year":"1974","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib15","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1021\/bi00601a013","article-title":"Enhanced binding by cultured human fibroblasts of apo-E-containing lipoproteins as compared with low density lipoproteins","volume":"17","author":"Innerarity","year":"1978","journal-title":"Biochemistry"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib16","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1038\/41798","article-title":"Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module","volume":"388","author":"Fass","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib17","doi-asserted-by":"crossref","first-page":"9533","DOI":"10.1016\/S0021-9258(18)60564-2","article-title":"Stoichiometric binding of low density lipoprotein (LDL) and monoclonal antibodies to LDL receptors in a solid phase assay","volume":"264","author":"Van Driel","year":"1989","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib18","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1146\/annurev.biochem.74.082803.133354","article-title":"Structure and physiologic function of the low-density lipoprotein receptor","volume":"74","author":"Jeon","year":"2005","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib19","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1194\/jlr.C500007-JLR200","article-title":"Triglyceride-rich lipoprotein metabolism in unique VLDL receptor, LDL receptor, and LRP triple-deficient mice","volume":"46","author":"Espirito Santo","year":"2005","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib20","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1161\/hq0901.095147","article-title":"Protection from obesity in mice lacking the VLDL receptor","volume":"21","author":"Goudriaan","year":"2001","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib21","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1016\/S0022-2275(20)32367-1","article-title":"LDL receptor deficiency unmasks altered VLDL triglyceride metabolism in VLDL receptor transgenic and knockout mice","volume":"41","author":"Tacken","year":"2000","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib22","doi-asserted-by":"crossref","first-page":"E1811","DOI":"10.1002\/humu.21348","article-title":"Molecular spectrum of autosomal dominant hypercholesterolemia in France","volume":"31","author":"Marduel","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib23","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.atherosclerosis.2006.10.003","article-title":"Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic","volume":"194","author":"Tosi","year":"2007","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib24","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<413::AID-HUMU17>3.0.CO;2-F","article-title":"Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online","volume":"11","author":"Cenarro","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib25","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.0.CO;2-I","article-title":"Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia","volume":"10","author":"Day","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib26","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1046\/j.1469-1809.1999.6360511.x","article-title":"Linking genotype to aorto-coronary atherosclerosis: a model using familial hypercholesterolemia and aorto-coronary calcification","volume":"63","author":"Jensen","year":"1999","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib27","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/humu.1171","article-title":"Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia","volume":"18","author":"Nauck","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib28","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.atherosclerosis.2013.12.028","article-title":"Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia","volume":"233","author":"Santos","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib29","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.atherosclerosis.2013.01.007","article-title":"Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy","volume":"227","author":"Bertolini","year":"2013","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib30","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.jpeds.2009.02.022","article-title":"The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia","volume":"155","author":"Guardamagna","year":"2009","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib31","doi-asserted-by":"crossref","first-page":"4926","DOI":"10.1210\/jcem.86.10.7899","article-title":"Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol","volume":"86","author":"Chaves","year":"2001","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.atherosclerosis.2014.12.026_bib32","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/humu.20256","article-title":"Update of the molecular basis of familial hypercholesterolemia in The Netherlands","volume":"26","author":"Fouchier","year":"2005","journal-title":"Hum. Mutat."}],"container-title":["Atherosclerosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021915014016487?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021915014016487?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,4,24]],"date-time":"2022-04-24T18:26:46Z","timestamp":1650824806000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021915014016487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["S0021915014016487"],"URL":"https:\/\/doi.org\/10.1016\/j.atherosclerosis.2014.12.026","relation":{},"ISSN":["0021-9150"],"issn-type":[{"value":"0021-9150","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats","name":"articletitle","label":"Article Title"},{"value":"Atherosclerosis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.atherosclerosis.2014.12.026","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}