{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T15:35:14Z","timestamp":1792683314519,"version":"4.5.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2012,11]]},"DOI":"10.1016\/j.ymgme.2012.08.005","type":"journal-article","created":{"date-parts":[[2012,8,18]],"date-time":"2012-08-18T03:42:41Z","timestamp":1345261361000},"page":"534-541","source":"Crossref","is-referenced-by-count":34,"title":["Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency"],"prefix":"10.1016","volume":"107","author":[{"given":"Tommaso","family":"Fasano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Zanoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Rabacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Pisciotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elda","family":"Favari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Pia","family":"Adorni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick B.","family":"Deegan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thinn","family":"Hlaing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Feher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asli Subasioglu","family":"Uzak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Kardas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Dardis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Sechi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Bembi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Minuz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Bertolini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Bernini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiano","family":"Calandra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.08.005_bb0005","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"2937","article-title":"Familial analphalipoproteinemia: Tangier disease","author":"Assmann","year":"2001"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0010","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.ymgme.2012.08.005_bb0015","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/MOL.0b013e32833c1ef6","article-title":"Marked HDL deficiency and premature coronary heart disease","volume":"21","author":"Schaefer","year":"2010","journal-title":"Curr. Opin. Lipidol."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0020","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1152\/physrev.00005.2005","article-title":"ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease","volume":"85","author":"Oram","year":"2005","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0025","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.bbalip.2009.03.011","article-title":"The cell cholesterol exporter ABCA1 as a protector from cardiovascular disease and diabetes","volume":"1791","author":"Tang","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0030","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.tcm.2010.03.006","article-title":"Adenosine-triphosphate-binding cassette transporter-1 trafficking and function","volume":"20","author":"Kang","year":"2010","journal-title":"Trends Cardiovasc. Med."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0035","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1146\/annurev.nutr.26.061505.111214","article-title":"Variation on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis","volume":"26","author":"Brunham","year":"2006","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0040","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0022-2275(20)34482-5","article-title":"Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds","volume":"41","author":"Brousseau","year":"2000","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0045","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1172\/JCI10727","article-title":"Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes","volume":"106","author":"Clee","year":"2000","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0050","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1126\/science.1099870","article-title":"Multiple rare alleles contributes to low plasma levels of HDL cholesterol","volume":"305","author":"Cohen","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0055","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1172\/JCI200420361","article-title":"Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population","volume":"114","author":"Frikke-Schmidt","year":"2004","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0060","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.atherosclerosis.2009.06.005","article-title":"Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population","volume":"208","author":"Frikke-Schmidt","year":"2010","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0065","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 of ABCA1 transporter","volume":"265","author":"Pisciotta","year":"2009","journal-title":"J. Intern. Med."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0070","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0021-9150(03)00020-0","article-title":"Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency","volume":"167","author":"Pisciotta","year":"2003","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0075","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1161\/01.ATV.0000175751.30616.13","article-title":"The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families","volume":"25","author":"Calabresi","year":"2005","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0080","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1016\/j.cca.2011.08.001","article-title":"Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia","volume":"412","author":"Pisciotta","year":"2011","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0085","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 +5G>C mutation in ABCA1 gene","volume":"44","author":"Altilia","year":"2003","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0090","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 patients with Tangier disease","volume":"411","author":"Bocchi","year":"2010","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0095","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/S0925-4439(02)00066-2","article-title":"Novel ABCA1 compound variant associated with HDL cholesterol deficiency","volume":"1587","author":"Ho Hong","year":"2002","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0100","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.atherosclerosis.2004.02.019","article-title":"Screening for functional sequence variations and mutations in ABCA1","volume":"175","author":"Probst","year":"2004","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0105","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1007\/s00415-011-6340-2","article-title":"Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease","volume":"259","author":"Zyss","year":"2012","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0110","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.atherosclerosis.2003.11.009","article-title":"Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders","volume":"172","author":"Pisciotta","year":"2004","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0115","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/S0021-9150(00)00587-6","article-title":"A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease","volume":"154","author":"Bertolini","year":"2001","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0120","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s11883-012-0247-y","article-title":"Genetics of cholesterol efflux","volume":"14","author":"Iatan","year":"2012","journal-title":"Curr. Atheroscler. Rep."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0125","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1097\/01.rhu.0000129082.42094.fc","article-title":"Metabolic syndrome and ischemic heart disease in gout","volume":"10","author":"V\u00e1quez-Mellado","year":"2004","journal-title":"J. Clin. Rheumatol."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0130","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.atherosclerosis.2009.12.036","article-title":"Lipoprotein(a) and ischemic heart disease\u2014a casual association? A review","volume":"211","author":"Kamstrup","year":"2010","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0135","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.atherosclerosis.2010.08.062","article-title":"Identification and characterization of novel loss of function mutation in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol","volume":"213","author":"Candini","year":"2010","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0140","doi-asserted-by":"crossref","first-page":"12197","DOI":"10.1074\/jbc.M109.096933","article-title":"Targeted deletion of hepatocytes ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism","volume":"285","author":"Chung","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0145","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1194\/jlr.M900083","article-title":"A novel role for ABCA1-generated large pre-beta migrating nascent HDL in the regulation of hepatic VLDL triglyceride secretion","volume":"51","author":"Chung","year":"2010","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2012.08.005_bb0150","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.bbalip.2011.09.020","article-title":"Hepatic ABCA1 and VLDL triglyceride production","volume":"182","author":"Liu","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2012.08.005_bb0155","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."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212003058?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212003058?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T20:28:25Z","timestamp":1643228905000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212003058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["S1096719212003058"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.08.005","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,11]]}}}