{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T06:03:46Z","timestamp":1790402626207,"version":"4.1.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,11,12]],"date-time":"2018-11-12T00:00:00Z","timestamp":1541980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004271","name":"Sapienza Universit\u00e0 di Roma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004271","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2019,1]]},"DOI":"10.1016\/j.bbrc.2018.11.064","type":"journal-article","created":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T02:24:48Z","timestamp":1543544688000},"page":"487-493","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family"],"prefix":"10.1016","volume":"508","author":[{"given":"Marianna","family":"Maranghi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gessica","family":"Truglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Gallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Grieco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Verrienti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Montali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Gallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Alesini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Arca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5538-2494","authenticated-orcid":false,"given":"Marco","family":"Lucarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2018.11.064_bib1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.atherosclerosis.2005.10.033","article-title":"Differential diagnosis of familial high density lipoprotein deficiency syndromes","volume":"186","author":"von Eckardstein","year":"2006","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.bbrc.2018.11.064_bib2","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/11905","article-title":"Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency","volume":"22","author":"Brooks-Wilson","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2018.11.064_bib3","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"2937","article-title":"Familial analphalipoproteinemia: Tangier disease","author":"Assman","year":"2001"},{"key":"10.1016\/j.bbrc.2018.11.064_bib4","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.pcad.2016.08.006","article-title":"Diagnosis and treatment of high density lipoprotein deficiency","volume":"59","author":"Schaefer","year":"2016","journal-title":"Prog. Cardiovasc. Dis."},{"key":"10.1016\/j.bbrc.2018.11.064_bib5","doi-asserted-by":"crossref","first-page":"2741","DOI":"10.1161\/CIRCULATIONAHA.108.812164","article-title":"Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease","volume":"119","author":"Sampietro","year":"2009","journal-title":"Circulation"},{"key":"10.1016\/j.bbrc.2018.11.064_bib6","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1517\/13543784.10.3.427","article-title":"Novel approaches to treating cardiovascular disease: lessons from Tangier disease","volume":"10","author":"Oram","year":"2001","journal-title":"Expet Opin. Invest. Drugs"},{"key":"10.1016\/j.bbrc.2018.11.064_bib7","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/11914","article-title":"The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease","volume":"22","author":"Bodzioch","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2018.11.064_bib8","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1161\/01.ATV.0000078520.89539.77","article-title":"Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene","volume":"23","author":"Singaraja","year":"2003","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.bbrc.2018.11.064_bib9","doi-asserted-by":"crossref","first-page":"33053","DOI":"10.1074\/jbc.M005438200","article-title":"Specific binding of ApoA-I, enhanced cholesterol efflux, and altered plasma membrane morphology in cells expressing ABC1","volume":"275","author":"Wang","year":"2000","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.bbrc.2018.11.064_bib10","doi-asserted-by":"crossref","first-page":"12197","DOI":"10.1074\/jbc.M109.096933","article-title":"Targeted deletion of hepatocyte ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism","volume":"285","author":"Chung","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.bbrc.2018.11.064_bib11","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/BF03261839","article-title":"Tangier disease: epidemiology, pathophysiology, and management","volume":"12","author":"Puntoni","year":"2012","journal-title":"Am. J. Cardiovasc. Drugs"},{"key":"10.1016\/j.bbrc.2018.11.064_bib12","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbrc.2018.11.064_bib13","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1016\/j.febslet.2005.02.047","article-title":"Are splicing mutations the most frequent cause of hereditary disease?","volume":"579","author":"Lopez-Bigas","year":"2005","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbrc.2018.11.064_bib14","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/00004872-200202000-00001","article-title":"Intima-media thickness: a new tool for diagnosis and treatment of cardiovascular risk","volume":"20","author":"Simon","year":"2002","journal-title":"J.\u00a0Hypertens."},{"key":"10.1016\/j.bbrc.2018.11.064_bib15","first-page":"1539","article-title":"Mean levels and distributions of some cardiovascular risk factors in Italy in the 1970's and the 1980's. The Italian RIFLE Pooling Project. Risk factors and life expectancy","volume":"25","author":"Menotti","year":"1995","journal-title":"G.\u00a0Ital. Cardiol."},{"key":"10.1016\/j.bbrc.2018.11.064_bib16","article-title":"Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspects","volume":"10","author":"Montali","year":"2015","journal-title":"PloS One"},{"key":"10.1016\/j.bbrc.2018.11.064_bib17","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1515\/CCLM.2011.604","article-title":"A\u00a0template for mutational data analysis of the CFTR gene","volume":"49","author":"Ferraguti","year":"2011","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.bbrc.2018.11.064_bib18","doi-asserted-by":"crossref","first-page":"257","DOI":"10.2119\/molmed.2014.00229","article-title":"A\u00a0genotypic-oriented view of CFTR genetics highlights specific mutational patterns underlying clinical macrocategories of cystic fibrosis","volume":"21","author":"Lucarelli","year":"2015","journal-title":"Mol. Med."},{"key":"10.1016\/j.bbrc.2018.11.064_bib19","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1016\/j.fertnstert.2004.03.065","article-title":"High frequency of (TG)mTn variant tracts in the cystic fibrosis transmembrane conductance regulator gene in men with high semen viscosity","volume":"82","author":"Rossi","year":"2004","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.bbrc.2018.11.064_bib20","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.jcf.2014.12.012","article-title":"Clinical expression of patients with the D1152H CFTR mutation","volume":"14","author":"Terlizzi","year":"2015","journal-title":"J.\u00a0Cyst. Fibros."},{"key":"10.1016\/j.bbrc.2018.11.064_bib21","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmedgenet-2016-103985","article-title":"Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles","volume":"54","author":"Terlizzi","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.bbrc.2018.11.064_bib22","doi-asserted-by":"crossref","first-page":"185","DOI":"10.3389\/fneur.2016.00185","article-title":"A\u00a0novel mutation in ABCA1 gene causing Tangier disease in an Italian family with uncommon neurological presentation","volume":"7","author":"Ceccanti","year":"2016","journal-title":"Front. Neurol."},{"key":"10.1016\/j.bbrc.2018.11.064_bib23","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0014-5793(02)02857-0","article-title":"The expression of native and oxidized LDL receptors in brain microvessels is specifically enhanced by astrocytes-derived soluble factor(s)","volume":"522","author":"Lucarelli","year":"2002","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbrc.2018.11.064_bib24","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S0925-4439(01)00053-9","article-title":"Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome","volume":"1537","author":"Lapicka-Bodzioch","year":"2001","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2018.11.064_bib25","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.ymgme.2012.08.005","article-title":"Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency","volume":"107","author":"Fasano","year":"2012","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.bbrc.2018.11.064_bib26","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.cca.2009.08.017","article-title":"A\u00a0novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency","volume":"409","author":"Hooper","year":"2009","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.bbrc.2018.11.064_bib27","doi-asserted-by":"crossref","first-page":"34032","DOI":"10.1074\/jbc.M405174200","article-title":"Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease)","volume":"279","author":"Nofer","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.bbrc.2018.11.064_bib28","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/jth.13247","article-title":"ATP-binding cassette transporter 1 (ABCA1) deficiency decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1","volume":"14","author":"Lhermusier","year":"2016","journal-title":"J.\u00a0Thromb. Haemostasis"},{"key":"10.1016\/j.bbrc.2018.11.064_bib29","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1471-2350-4-8","article-title":"Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associates with clinical outcomes in patients with established CAD","volume":"4","author":"Baroni","year":"2003","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.bbrc.2018.11.064_bib30","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1097\/MOL.0b013e3283426ebc","article-title":"Altered mRNA splicing in lipoprotein disorders","volume":"22","author":"Calandra","year":"2011","journal-title":"Curr. Opin. Lipidol."},{"key":"10.1016\/j.bbrc.2018.11.064_bib31","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/j.jmoldx.2017.06.002","article-title":"A\u00a0new targeted CFTR mutation panel based on next-generation sequencing technology","volume":"19","author":"Lucarelli","year":"2017","journal-title":"J.\u00a0Mol. Diagn."},{"issue":"2","key":"10.1016\/j.bbrc.2018.11.064_bib32","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1194\/jlr.M200248-JLR200","article-title":"Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2\u00a0+5G>C mutation in ABCA1 gene","volume":"44","author":"Altilia","year":"2003","journal-title":"J.\u00a0Lipid Res."},{"issue":"7\u20138","key":"10.1016\/j.bbrc.2018.11.064_bib33","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.cca.2010.01.008","article-title":"Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease","volume":"411","author":"Bocchi","year":"2010","journal-title":"Clin. Chim. Acta"},{"issue":"4","key":"10.1016\/j.bbrc.2018.11.064_bib34","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/11905","article-title":"Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency","volume":"22","author":"Brooks-Wilson","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2018.11.064_bib35","first-page":"51","article-title":"Clinical, biochemical, and molecular characterization of novel mutations in ABCA1 in families with Tangier disease","volume":"18","author":"Brunham","year":"2015","journal-title":"JIMD Rep."},{"issue":"3","key":"10.1016\/j.bbrc.2018.11.064_bib36","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.ymgme.2012.08.005","article-title":"Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency","volume":"107","author":"Fasano","year":"2012","journal-title":"Mol. Genet. Metabol."},{"issue":"10","key":"10.1016\/j.bbrc.2018.11.064_bib37","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1161\/01.RES.0000102957.84247.8F","article-title":"Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease","volume":"93","author":"Hong","year":"2003","journal-title":"Circ. Res."},{"issue":"2","key":"10.1016\/j.bbrc.2018.11.064_bib38","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1097\/01.mol.0000162318.47172.ef","article-title":"Inherited disorders of HDL metabolism and atherosclerosis","volume":"16","author":"Hovingh","year":"2005","journal-title":"Curr. Opin. Lipidol."},{"issue":"1","key":"10.1016\/j.bbrc.2018.11.064_bib39","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.jacl.2012.09.004","article-title":"A\u00a0novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease","volume":"7","author":"Negi","year":"2013","journal-title":"J.\u00a0Clin. Lipidol."},{"issue":"5","key":"10.1016\/j.bbrc.2018.11.064_bib40","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.neurol.2009.12.001","article-title":"Tangier disease phenotype diversity in dizygous twin sisters","volume":"166","author":"Pichit","year":"2010","journal-title":"Rev. Neurol. (Paris)"},{"issue":"3","key":"10.1016\/j.bbrc.2018.11.064_bib41","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.1365-2796.2008.02019.x","article-title":"Severe HDL deficiency due to novel defects in the ABCA1 transporter","volume":"265","author":"Pisciotta","year":"2009","journal-title":"J.\u00a0Intern. Med."},{"key":"10.1016\/j.bbrc.2018.11.064_bib42","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2350-10-1","article-title":"Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease","volume":"10","author":"Rhyne","year":"2009","journal-title":"BMC Med. Genet."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X18324781?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X18324781?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T11:31:30Z","timestamp":1757763090000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X18324781"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["S0006291X18324781"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2018.11.064","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family","name":"articletitle","label":"Article Title"},{"value":"Biochemical and Biophysical Research Communications","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbrc.2018.11.064","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}