{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:45:39Z","timestamp":1792291539098,"version":"4.4.0"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T00:00:00Z","timestamp":1096588800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background: Plasma lipoproteins are important determinants of atherosclerosis. Apolipoprotein (apo) B is a large, amphipathic glycoprotein that plays a central role in human lipoprotein metabolism. Two forms of apoB are produced from the APOB gene by a unique posttranscriptional editing process: apoB-48, which is required for chylomicron production in the small intestine, and apoB-100, required for VLDL production in the liver. In addition to being the essential structural component of VLDL, apoB-100 is the ligand for LDL-receptor-mediated endocytosis of LDL particles.<\/jats:p>\n                  <jats:p>Content: The study of monogenic dyslipidemias has revealed important aspects of metabolic pathways. In this review, we discuss the regulation of apoB metabolism and examine how APOB gene defects can lead to both hypo- and hypercholesterolemia. The key clinical, metabolic, and genetic features of familial hypobetalipoproteinemia and familial ligand-defective apoB-100 are described.<\/jats:p>\n                  <jats:p>Summary: Missense mutations in the LDL-receptor-binding domain of apoB cause familial ligand-defective apoB-100, characterized by hypercholesterolemia and premature coronary artery disease. Other mutations in APOB can cause familial hypobetalipoproteinemia, characterized by hypocholesterolemia and resistance to atherosclerosis. These naturally occurring mutations reveal key domains in apoB and demonstrate how monogenic dyslipidemias can provide insight into biologically important mechanisms.<\/jats:p>","DOI":"10.1373\/clinchem.2004.038026","type":"journal-article","created":{"date-parts":[[2004,8,12]],"date-time":"2004-08-12T20:24:30Z","timestamp":1092342270000},"page":"1725-1732","source":"Crossref","is-referenced-by-count":212,"title":["Lipid Disorders and Mutations in the APOB Gene"],"prefix":"10.1093","volume":"50","author":[{"given":"Amanda J","family":"Whitfield","sequence":"first","affiliation":[{"name":"School of Surgery and Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P Hugh R","family":"Barrett","sequence":"first","affiliation":[{"name":"School of Medicine and Pharmacology, University of Western Australia, Crawley WA, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank M","family":"van Bockxmeer","sequence":"first","affiliation":[{"name":"School of Surgery and Pathology, and"},{"name":"Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, Perth WA, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R","family":"Burnett","sequence":"first","affiliation":[{"name":"School of Medicine and Pharmacology, University of Western Australia, Crawley WA, Australia"},{"name":"Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, Perth WA, 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