Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk
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Brezski, 2007, B cell antigen receptor-induced Rac1 activation and Rac1-dependent spreading are impaired in transitional immature B cells due to levels of membrane cholesterol, J. Immunol., 179, 4464, 10.4049/jimmunol.179.7.4464
Pucadyil, 2006, Role of cholesterol in the function and organization of G-protein coupled receptors, Prog. Lipid Res., 45, 295, 10.1016/j.plipres.2006.02.002
Mistafa, 2009, Statins inhibit Akt/PKB signaling via P2X7 receptor in pancreatic cancer cells, Biochem. Pharmacol., 78, 1115, 10.1016/j.bcp.2009.06.016
Sun, 2009, Free cholesterol accumulation in macrophage membranes activates Toll-like receptors and p38 mitogen-activated protein kinase and induces cathepsin K, Circ. Res., 104, 455, 10.1161/CIRCRESAHA.108.182568
Ridsdale, 2006, Cholesterol is required for efficient endoplasmic reticulum-to-Golgi transport of secretory membrane proteins, Mol. Biol. Cell., 17, 1593, 10.1091/mbc.e05-02-0100
Glodowski, 2007, RAB-10 regulates glutamate receptor recycling in a cholesterol-dependent endocytosis pathway, Mol. Biol. Cell., 18, 4387, 10.1091/mbc.e07-05-0486
Lippincott-Schwartz, 2010, Lipids and cholesterol as regulators of traffic in the endomembrane system, Annu. Rev. Biophys., 39, 559, 10.1146/annurev.biophys.093008.131357
Vacca, 2009, Rapid constitutive and ligand-activated endocytic trafficking of P2X receptor, J. Neurochem., 109, 1031, 10.1111/j.1471-4159.2009.06029.x
Vrljic, 2005, Cholesterol depletion suppresses the translational diffusion of class II major histocompatibility complex proteins in the plasma membrane, Biophys. J., 88, 334, 10.1529/biophysj.104.045989
Feingold, 2007, Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis, J. Lipid Res., 48, 2531, 10.1194/jlr.R700013-JLR200
Ponce, 2010, The effect of simvastatin on the proteome of detergent-resistant membrane domains: decreases of specific proteins previously related to cytoskeleton regulation, calcium homeostasis and cell fate, Proteomics., 10, 1954, 10.1002/pmic.200900055
Chrast, 2011, Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models, J. Lipid Res., 52, 419, 10.1194/jlr.R009761
Fredrickson, 1965, A system for phenotyping hyperlipoproteinemia, Circulation., 31, 321, 10.1161/01.CIR.31.3.321
Porter, 2011, Malformation syndromes caused by disorders of cholesterol synthesis, J. Lipid Res., 52, 6, 10.1194/jlr.R009548
Abi-Mosleh, 2009, Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells, Proc. Natl. Acad. Sci. USA., 106, 19316, 10.1073/pnas.0910916106
Rosenbaum, 2011, Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches, J. Neurochem., 116, 789, 10.1111/j.1471-4159.2010.06976.x
Garver, 2010, The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes, J. Lipid Res., 51, 406, 10.1194/jlr.P000331
Temel, 2007, Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe, J. Clin. Invest., 117, 1968, 10.1172/JCI30060
Liu, 2005, Investigating the allosterism of acyl-CoA:cholesterol acyltransferase (ACAT) by using various sterols: in vitro and intact cell studies, Biochem. J., 391, 389, 10.1042/BJ20050428
Gylling, 2002, Inheritance of cholesterol metabolism of probands with high or low cholesterol absorption, J. Lipid Res., 43, 1472, 10.1194/jlr.M200155-JLR200
Simonen, 2007, The distribution of squalene and non-cholesterol sterols in lipoproteins in type 2 diabetes, Atherosclerosis., 194, 222, 10.1016/j.atherosclerosis.2006.07.030
Wiesner, 2009, Lipid profiling of FPLC-separated lipoprotein fractions by electrospray ionization tandem mass spectrometry, J. Lipid Res., 50, 574, 10.1194/jlr.D800028-JLR200
März, 1993, Fast lipoprotein chromatography: new method of analysis for plasma lipoproteins, Clin. Chem., 39, 2276, 10.1093/clinchem/39.11.2276
Ståhlman, 2008, Proteomics and lipids of lipoproteins isolated at low salt concentrations in D2O/sucrose or in KBr, J. Lipid Res., 49, 481, 10.1194/jlr.D700025-JLR200
Gregg, 1986, Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis, J. Clin. Invest., 77, 1864, 10.1172/JCI112513
Salen, 1992, Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia, Arterioscler. Thromb., 12, 563, 10.1161/01.ATV.12.5.563
Narushima, 2008, Niemann-pick C1-like 1 mediates alpha-tocopherol transport, Mol. Pharmacol., 74, 42, 10.1124/mol.107.043034
Duan, 2004, Cholesterol absorption is mainly regulated by the jejunal and ileal ATP-binding cassette sterol efflux transporters Abcg5 and Abcg8 in mice, J. Lipid Res., 45, 1312, 10.1194/jlr.M400030-JLR200
Plösch, 2004, Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor, Gastroenterology., 126, 290, 10.1053/j.gastro.2003.10.074
Wang, 2007, Quantifying anomalous intestinal sterol uptake, lymphatic transport, and biliary secretion in Abcg8( 2 / 2 ) mice, Hepatology., 45, 998, 10.1002/hep.21579
Yu, 2004, Selective sterol accumulation in ABCG5/ABCG8-deficient mice, J. Lipid Res., 45, 301, 10.1194/jlr.M300377-JLR200
Teslovich, 2010, Biological, clinical and population relevance of 95 loci for blood lipids, Nature., 466, 707, 10.1038/nature09270
Altmann, 2004, Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption, Science., 303, 1201, 10.1126/science.1093131
Sané, 2006, Localization and role of NPC1L1 in cholesterol absorption in human intestine, J. Lipid Res., 47, 2112, 10.1194/jlr.M600174-JLR200
Brown, 2007, NPC1L1 (Niemann-Pick C1-like 1) mediates sterol-specific unidirectional transport of non-esterified cholesterol in McArdle-RH7777 hepatoma cells, Biochem. J., 406, 273, 10.1042/BJ20070168
Ezzet, 2001, The plasma concentration and LDL-C relationship in patients receiving ezetimibe, J. Clin. Pharmacol., 41, 943, 10.1177/00912700122010915
Sudhop, 2002, Inhibition of intestinal cholesterol absorption by ezetimibe in humans, Circulation., 106, 1943, 10.1161/01.CIR.0000034044.95911.DC
Foody, 2010, Safety and efficacy of ezetimibe/simvastatin combination versus atorvastatin alone in adults ≥ 65 years of age with hypercholesterolemia and with or at moderately high/high risk for coronary heart disease (the VYTELD study), Am. J. Cardiol., 106, 1255, 10.1016/j.amjcard.2010.06.051
Howard, 2010, The role of ezetimibe in the prevention of cardiovascular disease: where do we stand after ARBITER 6-HALTS, Nutr. Metab. Cardiovasc. Dis., 20, 295, 10.1016/j.numecd.2010.05.002
Lioudaki, 2011, Ezetimibe; more than a low density lipoprotein cholesterol lowering drug? An update after 4 years, Curr. Vasc. Pharmacol., 9, 62, 10.2174/157016111793744760
Clarenbach, 2006, The lipid-lowering effect of ezetimibe in pure vegetarians, J. Lipid Res., 47, 2820, 10.1194/jlr.P600009-JLR200
Davis, 2004, Niemann-Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis, J. Biol. Chem., 279, 33586, 10.1074/jbc.M405817200
Tang, 2009, Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8, J. Lipid Res., 50, 293, 10.1194/jlr.M800439-JLR200
Bosner, 1999, Percent cholesterol absorption in normal women and men quantified with dual stable isotopic tracers and negative ion mass spectrometry, J. Lipid Res., 40, 302, 10.1016/S0022-2275(20)33370-8
Miettinen, 2006, Liver transplantation in a patient with sitosterolemia and cirrhosis, Gastroenterology., 130, 542, 10.1053/j.gastro.2005.10.022
Boomsma, 2003, Genetic analysis of indicators of cholesterol synthesis and absorption: lathosterol and phytosterols in Dutch twins and their parents, Twin Res., 6, 307, 10.1375/136905203322296674
Cohen, 2006, Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels, Proc. Natl. Acad. Sci. USA., 103, 1810, 10.1073/pnas.0508483103
Polisecki, 2010, Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly, J. Lipid Res., 51, 1201, 10.1194/jlr.P001172
Miettinen, 1990, Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population, Am. J. Epidemiol., 131, 20, 10.1093/oxfordjournals.aje.a115479
Fahmi, 2008, Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes, Hum. Mol. Genet., 17, 2101, 10.1093/hmg/ddn108
Wang, 2011, Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers, J. Biol. Chem., 286, 7397, 10.1074/jbc.M110.178368
Ge, 2008, The cholesterol absorption inhibitor ezetimibe acts by blocking the sterol-induced internalization of NPC1L1, Cell Metab., 7, 508, 10.1016/j.cmet.2008.04.001
Simon, 2005, Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment, Genomics., 86, 648, 10.1016/j.ygeno.2005.08.007
Pisciotta, 2007, Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients, Atherosclerosis., 194, e116, 10.1016/j.atherosclerosis.2006.10.036
Iwayanagi, 2008, HNF4alpha is a crucial modulator of the cholesterol-dependent regulation of NPC1L1, Pharm. Res., 25, 1134, 10.1007/s11095-007-9496-9
Pramfalk, 2010, HNF1alpha and SREBP2 are important regulators of NPC1L1 in human liver, J. Lipid Res., 51, 1354, 10.1194/jlr.M900274-JLR200
Tremblay, 2011, Atorvastatin increases intestinal expression of NPC1L1 in hyperlipidemic men, J. Lipid Res., 52, 558, 10.1194/jlr.M011080
Berge, 2000, Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters, Science., 290, 1771, 10.1126/science.290.5497.1771
Lee, 2001, Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption, Nat. Genet., 27, 79, 10.1038/83799
Graf, 2003, ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion, J. Biol. Chem., 278, 48275, 10.1074/jbc.M310223200
Vrins, 2007, The sterol transporting heterodimer ABCG5/ABCG8 requires bile salts to mediate cholesterol efflux, FEBS Lett., 581, 4616, 10.1016/j.febslet.2007.08.052
Klett, 2004, Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine, BMC Gastroenterol., 4, 21, 10.1186/1471-230X-4-21
Tauscher, 2003, ABCG5 and ABCG8 are expressed in gallbladder epithelial cells, Biochem. Biophys. Res. Commun., 307, 1021, 10.1016/S0006-291X(03)01296-8
Lütjohann, 1995, Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment, J. Lipid Res., 36, 1763, 10.1016/S0022-2275(20)41495-6
Salen, 1994, Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia, J. Lipid Res., 35, 1878, 10.1016/S0022-2275(20)39783-2
Igel, 2003, Comparison of the intestinal uptake of cholesterol, plant sterols, and stanols in mice, J. Lipid Res., 44, 533, 10.1194/jlr.M200393-JLR200
Lam, 2002, Novel donor splice site mutation of ABCG5 gene in sitosterolemia, Mol. Genet. Metab., 75, 178, 10.1006/mgme.2001.3285
Wang, 2004, Phenotypic heterogeneity of sitosterolemia, J. Lipid Res., 45, 2361, 10.1194/jlr.M400310-JLR200
Su, 2006, Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities, Haematologica., 91, 1392
Togo, 2009, Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases, Clin. Chim. Acta., 401, 165, 10.1016/j.cca.2008.10.026
Niu, 2010, Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children, J. Inherit. Metab. Dis., 33, 437, 10.1007/s10545-010-9126-2
Salen, 1985, Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis, J. Lipid Res., 26, 1126, 10.1016/S0022-2275(20)34286-3
Hubacek, 2001, Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia, Hum. Mutat., 18, 359, 10.1002/humu.1206
Heimer, 2002, Structure of polydispersed colloids characterised by light scattering and electron microscopy, Adv. Colloid Interface Sci., 98, 1, 10.1016/S0001-8686(01)00090-2
Katayama, 2003, A 19-year-old man with myocardial infarction and sitosterolemia, Intern. Med., 42, 591, 10.2169/internalmedicine.42.591
Mushtaq, 2007, Adrenal insufficiency in phytosterolaemia, Eur. J. Endocrinol., 157, S61, 10.1530/EJE-07-0222
Rees, 2005, Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia, Br. J. Haematol., 130, 297, 10.1111/j.1365-2141.2005.05599.x
Bhattacharyya, 1974, Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters, J. Clin. Invest., 53, 1033, 10.1172/JCI107640
Rios, 2010, Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia, Hum. Mol. Genet., 19, 4313, 10.1093/hmg/ddq352
Nguyen, 1988, The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis, Metabolism., 37, 346, 10.1016/0026-0495(88)90134-5
Heimerl, 2002, Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia, Hum. Mutat., 20, 151, 10.1002/humu.9047
Cheng, 2003, Sitosterolaemia and xanthomatosis in a child, Hong Kong Med. J., 9, 206
Sehayek, 2004, Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels, J. Lipid Res., 45, 1608, 10.1194/jlr.M400006-JLR200
Mannucci, 2007, Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene, Eur. J. Clin. Invest., 37, 997, 10.1111/j.1365-2362.2007.01880.x
Lu, 2001, Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively, Am. J. Hum. Genet., 69, 278, 10.1086/321294
Zhang, 2008, Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor, Proc. Natl. Acad. Sci. USA., 105, 13045, 10.1073/pnas.0806312105
Johnson, 2010, Bile acids stimulate ATP hydrolysis in the purified cholesterol transporter ABCG5/G8, Biochemistry., 49, 3403, 10.1021/bi902064g
Graf, 2004, Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking, J. Biol. Chem., 279, 24881, 10.1074/jbc.M402634200
Kenny, 2009, Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae, Proc. Natl. Acad. Sci. USA., 106, 13886, 10.1073/pnas.0907336106
Honda, 1998, J. Lipid Res., 39, 44, 10.1016/S0022-2275(20)34201-2
Nguyen, 1990, Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin, Arteriosclerosis., 10, 289, 10.1161/01.ATV.10.2.289
Nguyen, 1991, Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction, J. Lipid Res., 32, 1941, 10.1016/S0022-2275(20)41897-8
Nguyen, 1990, A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis, J. Clin. Invest., 86, 923, 10.1172/JCI114794
Berge, 2002, Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8, J. Lipid Res., 43, 486, 10.1016/S0022-2275(20)30155-3
Gylling, 2004, Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity, J. Lipid Res., 45, 1660, 10.1194/jlr.M300522-JLR200
Jakulj, 2010, ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis, J. Lipid Res., 51, 3016, 10.1194/jlr.M008128
Teupser, 2010, Genetic regulation of serum phytosterol levels and risk of coronary artery disease, Circ. Cardiovasc. Genet., 3, 331, 10.1161/CIRCGENETICS.109.907873
Buch, 2007, A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease, Nat. Genet., 39, 995, 10.1038/ng2101
Grünhage, 2007, Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol, Hepatology., 46, 793, 10.1002/hep.21847
Katsika, 2010, Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype, J. Intern. Med., 268, 279, 10.1111/j.1365-2796.2010.02249.x
Kuo, 2008, Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease, Br. J. Surg., 95, 1005, 10.1002/bjs.6178
Siddapuram, 2010, Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population, J. Gastroenterol. Hepatol., 25, 1093, 10.1111/j.1440-1746.2010.06309.x
Stender, 2011, Sterol transporter adenosine triphosphate-binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population, Hepatology., 53, 640, 10.1002/hep.24046
Chiang, 2009, Bile acids: regulation of synthesis, J. Lipid Res., 50, 1955, 10.1194/jlr.R900010-JLR200
Schmidt, 2010, Regulation of bile acid synthesis by fat-soluble vitamins A and D, J. Biol. Chem., 285, 14486, 10.1074/jbc.M110.116004
Tint, 1994, Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome, N. Engl. J. Med., 330, 107, 10.1056/NEJM199401133300205
Burkhardt, 2008, Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13, Arterioscler. Thromb. Vasc. Biol., 28, 2078, 10.1161/ATVBAHA.108.172288
Hiura, 2010, Association of the functional variant in the 3-hydroxy-3-methylglutaryl-coenzyme a reductase gene with low-density lipoprotein-cholesterol in Japanese, Circ. J., 74, 518, 10.1253/circj.CJ-09-0790
Fisher, 2011, Ubiquitination regulates the assembly of VLDL in HepG2 cells and is the committing step of the apoB-100 ERAD pathway, J. Lipid Res., 52, 1170, 10.1194/jlr.M011726
Rutledge, 2010, Apolipoprotein B100 biogenesis: a complex array of intracellular mechanisms regulating folding, stability, and lipoprotein assembly, Biochem. Cell Biol., 88, 251, 10.1139/O09-168
Qiu, 2011, Hepatic autophagy mediates endoplasmic reticulum stress-induced degradation of misfolded apolipoprotein B, Hepatology., 53, 1515, 10.1002/hep.24269
Jiang, 2005, Limited proteolysis and biophysical characterization of the lipovitellin homology region in apolipoprotein B, Biochemistry., 44, 1163, 10.1021/bi048286y
Jiang, 2006, Defining lipid-interacting domains in the N-terminal region of apolipoprotein B, Biochemistry., 45, 11799, 10.1021/bi060600w
Wang, 2010, Interfacial properties of apolipoprotein B292-593 (B6.4-13) and B611-782 (B13-17). Insights into the structure of the lipovitellin homology region in apolipoprotein B, Biochemistry., 49, 3898, 10.1021/bi100056v
Ledford, 2009, Structural and dynamic interfacial properties of the lipoprotein initiating domain of apolipoprotein B, J. Lipid Res., 50, 108, 10.1194/jlr.M800324-JLR200
Manchekar, 2008, Charged amino acid residues 997-1000 of human apolipoprotein B100 are critical for the initiation of lipoprotein assembly and the formation of a stable lipidated primordial particle in McA-RH7777 cells, J. Biol. Chem., 283, 29251, 10.1074/jbc.M804912200
Carraway, 2000, Specificity of lipid incorporation is determined by sequences in the N-terminal 37 of apoB, Biochemistry., 39, 9737, 10.1021/bi000791h
Ren, 2010, Model of human low-density lipoprotein and bound receptor based on cryoEM, Proc. Natl. Acad. Sci. USA., 107, 1059, 10.1073/pnas.0908004107
Iglesias, 2010, Severe hyperthyroidism: aetiology, clinical features and treatment outcome, Clin. Endocrinol. (Oxf.)., 72, 551, 10.1111/j.1365-2265.2009.03682.x
Huang, 1991, ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia, J. Lipid Res., 32, 1341, 10.1016/S0022-2275(20)41964-9
Najah, 2009, Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia, Clin. Chim. Acta., 401, 51, 10.1016/j.cca.2008.11.012
Aguilar-Salinas, 1995, Apoprotein B-100 production is decreased in subjects heterozygous for truncations of apoprotein B, Arterioscler. Thromb. Vasc. Biol., 15, 71, 10.1161/01.ATV.15.1.71
Elias, 1999, Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia, Arterioscler. Thromb. Vasc. Biol., 19, 2714, 10.1161/01.ATV.19.11.2714
Latour, 1997, Metabolism of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia without a truncated form of apoB, J. Lipid Res., 38, 592, 10.1016/S0022-2275(20)37267-9
Hooper, 2007, Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia, J. Clin. Endocrinol. Metab., 92, 1474, 10.1210/jc.2006-1998
Lancellotti, 2004, Hypobetalipoproteinemia with an apparently recessive inheritance due to a “de novo” mutation of apolipoprotein B, Biochim. Biophys. Acta., 1688, 61, 10.1016/j.bbadis.2003.11.002
Tarugi, 2001, Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene, J. Lipid Res., 42, 1552, 10.1016/S0022-2275(20)32208-2
Ruotolo, 1998, Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48, Atherosclerosis., 137, 125, 10.1016/S0021-9150(97)00262-1
Takahashi, 2001, Clinical characterization of a case with familial hypobetalipoproteinemia caused by apo B-76, a new truncation of apolipoprotein B, combined with apo E2/E2 phenotype, Intern. Med., 40, 1015, 10.2169/internalmedicine.40.1015
Talmud, 1994, Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia, J. Lipid Res., 35, 468, 10.1016/S0022-2275(20)41197-6
Ohashi, 1998, A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus, Arterioscler. Thromb. Vasc. Biol., 18, 1330, 10.1161/01.ATV.18.8.1330
Young, 1994, Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2, Hum. Mol. Genet., 3, 741, 10.1093/hmg/3.5.741
Lancellotti, 2005, Pediatric gallstone disease in familial hypobetalipoproteinemia, J. Hepatol., 43, 188, 10.1016/j.jhep.2005.03.012
Krul, 1989, Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia, Arteriosclerosis., 9, 856, 10.1161/01.ATV.9.6.856
Young, 1989, Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46), N. Engl. J. Med., 320, 1604, 10.1056/NEJM198906153202407
Farese, 1992, A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia, J. Lipid Res., 33, 569, 10.1016/S0022-2275(20)41622-0
Pulai, 1997, Normal intestinal dietary fat and cholesterol absorption, intestinal apolipoprotein B (ApoB) mRNA levels, and ApoB-48 synthesis in a hypobetalipoproteinemic kindred without any ApoB truncation, Metabolism., 46, 1095, 10.1016/S0026-0495(97)90285-7
Pulai, 1998, Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation, Am. J. Med. Genet., 80, 218, 10.1002/(SICI)1096-8628(19981116)80:3<218::AID-AJMG7>3.0.CO;2-0
Groenewegen, 1994, Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2), Arterioscler. Thromb., 14, 1695, 10.1161/01.ATV.14.11.1695
Nielsen, 1998, Genes for apolipoprotein B and microsomal triglyceride transfer protein are expressed in the heart: evidence that the heart has the capacity to synthesize and secrete lipoproteins, Circulation., 98, 13, 10.1161/01.CIR.98.1.13
Gautier, 2010, Human luteinized granulosa cells secrete apoB100-containing lipoproteins, J. Lipid Res., 51, 2245, 10.1194/jlr.M005181
Kaser, 2008, Microsomal triglyceride transfer protein regulates endogenous and exogenous antigen presentation by group 1 CD1 molecules, Eur. J. Immunol., 38, 2351, 10.1002/eji.200738102
Krzystanek, 2010, Expression of apolipoprotein B in the kidney attenuates renal lipid accumulation, J. Biol. Chem., 285, 10583, 10.1074/jbc.M109.078006
Yue, 2005, Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL, Atherosclerosis., 178, 107, 10.1016/j.atherosclerosis.2004.06.020
Ikewaki, 2004, Abnormal in vivo metabolism of apoB-containing lipoproteins in human apoE deficiency, J. Lipid Res., 45, 1302, 10.1194/jlr.M400020-JLR200
Mensenkamp, 1999, Apolipoprotein E participates in the regulation of very low density lipoprotein-triglyceride secretion by the liver, J. Biol. Chem., 274, 35711, 10.1074/jbc.274.50.35711
Demant, 1991, Influence of apolipoprotein E polymorphism on apolipoprotein B-100 metabolism in normolipemic subjects, J. Clin. Invest., 88, 1490, 10.1172/JCI115459
Gillard, 2009, Apolipoproteins A-I, A-II and E are independently distributed among intracellular and newly secreted HDL of human hepatoma cells, Biochim. Biophys. Acta., 1791, 1125, 10.1016/j.bbalip.2009.07.004
Gusarova, 2007, Golgi-associated maturation of very low density lipoproteins involves conformational changes in apolipoprotein B, but is not dependent on apolipoprotein E, J. Biol. Chem., 282, 19453, 10.1074/jbc.M700475200
Wang, 2007, Proteomic and lipid characterization of apolipoprotein B-free luminal lipid droplets from mouse liver microsomes: implications for very low density lipoprotein assembly, J. Biol. Chem., 282, 33218, 10.1074/jbc.M706841200
Lin, 2006, A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation, Am. J. Physiol. Gastrointest. Liver Physiol., 290, G1170, 10.1152/ajpgi.00402.2005
Tarugi, 2007, Molecular diagnosis of hypobetalipoproteinemia: an ENID review, Atherosclerosis., 195, e19, 10.1016/j.atherosclerosis.2007.05.003
Zhong, 2010, Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B, J. Biol. Chem., 285, 6453, 10.1074/jbc.M109.060467
Chen, 2000, A targeted apolipoprotein B-38.9-producing mutation causes fatty livers in mice due to the reduced ability of apolipoprotein B-38.9 to transport triglycerides, J. Biol. Chem., 275, 32807, 10.1074/jbc.M004913200
Burnett, 2003, A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia, J. Biol. Chem., 278, 13442, 10.1074/jbc.M300235200
Noto, 2009, Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia, Atherosclerosis., 206, 193, 10.1016/j.atherosclerosis.2009.01.037
Benn, 2008, Common and rare alleles in apolipoprotein B contribute to plasma levels of low-density lipoprotein cholesterol in the general population, J. Clin. Endocrinol. Metab., 93, 1038, 10.1210/jc.2007-1365
Narcisi, 1995, Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia, Am. J. Hum. Genet., 57, 1298
Berriot-Varoqueaux, 2000, The role of the microsomal triglygeride transfer protein in abetalipoproteinemia, Annu. Rev. Nutr., 20, 663, 10.1146/annurev.nutr.20.1.663
Chardon, 2009, Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases, Eur. J. Pediatr., 168, 983, 10.1007/s00431-008-0888-6
Zamel, 2008, Abetalipoproteinemia: two case reports and literature review, Orphanet J. Rare Dis., 3, 19, 10.1186/1750-1172-3-19
Blum, 1982, Role of apolipoprotein E-containing lipoproteins in abetalipoproteinemia, J. Clin. Invest., 70, 1157, 10.1172/JCI110714
Ikewaki, 1994, In vivo metabolism of apolipoproteins A-I and E in patients with abetalipoproteinemia: implications for the roles of apolipoproteins B and E in HDL metabolism, J. Lipid Res., 35, 1809, 10.1016/S0022-2275(20)39776-5
Illingworth, 1980, Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients, Gastroenterology., 78, 68, 10.1016/0016-5085(80)90194-8
Kuriyama, 1999, Blood dolichols in a patient with abetalipoproteinaemia, Ann. Clin. Biochem., 36, 176, 10.1177/000456329903600207
Iqbal, 2008, Microsomal triglyceride transfer protein enhances cellular cholesteryl esterification by relieving product inhibition, J. Biol. Chem., 283, 19967, 10.1074/jbc.M800398200
Xie, 2006, Compensatory increase in hepatic lipogenesis in mice with conditional intestine-specific Mttp deficiency, J. Biol. Chem., 281, 4075, 10.1074/jbc.M510622200
Mohler, 2007, Identification of a novel isoform of microsomal triglyceride transfer protein, J. Biol. Chem., 282, 26981, 10.1074/jbc.M700500200
Goodman, 1983, Cholesterol turnover and metabolism in two patients with abetalipoproteinemia, J. Lipid Res., 24, 1605, 10.1016/S0022-2275(20)37859-7
Musunuru, 2010, Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia, N. Engl. J. Med., 363, 2220, 10.1056/NEJMoa1002926
Koishi, 2002, Angptl3 regulates lipid metabolism in mice, Nat. Genet., 30, 151, 10.1038/ng814
Köster, 2005, Transgenic angiopoietin-like (angptl)4 overexpression and targeted disruption of angptl4 and angptl3: regulation of triglyceride metabolism, Endocrinology., 146, 4943, 10.1210/en.2005-0476
Romeo, 2009, Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans, J. Clin. Invest., 119, 70
Moon, 2008, Higher frequency of abnormal serum angiopoietin-like protein 3 than abnormal cholesteryl ester transfer protein in Japanese hyperalphalipoproteinemic subjects, Clin. Chim. Acta., 398, 99, 10.1016/j.cca.2008.08.021
Liu, 2010, Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases, J. Biol. Chem., 285, 27561, 10.1074/jbc.M110.144279
Shan, 2009, The angiopoietin-like proteins ANGPTL3 and ANGPTL4 inhibit lipoprotein lipase activity through distinct mechanisms, J. Biol. Chem., 284, 1419, 10.1074/jbc.M808477200
Shimamura, 2007, Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase, Arterioscler. Thromb. Vasc. Biol., 27, 366, 10.1161/01.ATV.0000252827.51626.89
Charcosset, 2008, Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein, Mol. Genet. Metab., 93, 74, 10.1016/j.ymgme.2007.08.120
Dannoura, 1999, Anderson’s disease: exclusion of apolipoprotein and intracellular lipid transport genes, Arterioscler. Thromb. Vasc. Biol., 19, 2494, 10.1161/01.ATV.19.10.2494
Nemeth, 1995, Studies on lipoprotein metabolism in a family with jejunal chylomicron retention, Eur. J. Clin. Invest., 25, 271, 10.1111/j.1365-2362.1995.tb01559.x
Roy, 1987, Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease, Gastroenterology., 92, 390, 10.1016/0016-5085(87)90133-8
Treepongkaruna, 2009, Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease, J. Pediatr. Gastroenterol. Nutr., 48, 370, 10.1097/MPG.0b013e318183188f
Cefalù, 2010, Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene, Metabolism., 59, 463, 10.1016/j.metabol.2009.07.042
Bouma, 1986, Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson’s disease, J. Clin. Invest., 78, 398, 10.1172/JCI112590
Peretti, 2009, Chylomicron retention disease: a long term study of two cohorts, Mol. Genet. Metab., 97, 136, 10.1016/j.ymgme.2009.02.003
Peretti, 2010, Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers, Orphanet J. Rare Dis., 5, 24, 10.1186/1750-1172-5-24
Levy, 1987, Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease, J. Lipid Res., 28, 1263, 10.1016/S0022-2275(20)38593-X
Jones, 2003, Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders, Nat. Genet., 34, 29, 10.1038/ng1145
Georges, 2011, Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson’s disease (Chylomicron retention disease), Orphanet J. Rare Dis., 6, 1, 10.1186/1750-1172-6-1
Shoulders, 2004, The intracellular transport of chylomicrons requires the small GTPase, Sar1b, Curr. Opin. Lipidol., 15, 191, 10.1097/00041433-200404000-00012
Lee, 2007, Molecular mechanisms of COPII vesicle formation, Semin. Cell Dev. Biol., 18, 424, 10.1016/j.semcdb.2007.06.007
Stagg, 2006, Structure of the Sec13/31 COPII coat cage, Nature., 439, 234, 10.1038/nature04339
Stagg, 2008, Structural basis for cargo regulation of COPII coat assembly, Cell., 134, 474, 10.1016/j.cell.2008.06.024
Bi, 2002, Structure of the Sec23/24-Sar1 pre-budding complex of the COPII vesicle coat, Nature., 419, 271, 10.1038/nature01040
Rao, 2006, An open conformation of switch I revealed by Sar1-GDP crystal structure at low Mg2+, Biochem. Biophys. Res. Commun., 348, 908, 10.1016/j.bbrc.2006.07.148
Hermey, 2009, The Vps10p-domain receptor family, Cell. Mol. Life Sci., 66, 2677, 10.1007/s00018-009-0043-1
Chen, 2005, Sortilin controls intracellular sorting of brain-derived neurotrophic factor to the regulated secretory pathway, J. Neurosci., 25, 6156, 10.1523/JNEUROSCI.1017-05.2005
Nielsen, 1999, Sortilin/neurotensin receptor-3 binds and mediates degradation of lipoprotein lipase, J. Biol. Chem., 274, 8832, 10.1074/jbc.274.13.8832
Wähe, 2010, Golgi-to-phagosome transport of acid sphingomyelinase and prosaposin is mediated by sortilin, J. Cell Sci., 123, 2502, 10.1242/jcs.067686
Yuan, 2010, A stretch of 17 amino acids in the prosaposin C terminus is critical for its binding to sortilin and targeting to lysosomes, J. Histochem. Cytochem., 58, 287, 10.1369/jhc.2009.955203
Canuel, 2008, AP-1 and retromer play opposite roles in the trafficking of sortilin between the Golgi apparatus and the lysosomes, Biochem. Biophys. Res. Commun., 366, 724, 10.1016/j.bbrc.2007.12.015
Hu, 2010, Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin, Neuron., 68, 654, 10.1016/j.neuron.2010.09.034
Lefrancois, 2003, The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin, EMBO J., 22, 6430, 10.1093/emboj/cdg629
Petersen, 1997, Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography, J. Biol. Chem., 272, 3599, 10.1074/jbc.272.6.3599
Kjolby, 2010, Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export, Cell Metab., 12, 213, 10.1016/j.cmet.2010.08.006
Musunuru, 2010, From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus, Nature., 466, 714, 10.1038/nature09266
Jansen, 2007, Roles for the pro-neurotrophin receptor sortilin in neuronal development, aging and brain injury, Nat. Neurosci., 10, 1449, 10.1038/nn2000
Zeng, 2009, The inactivation of the sortilin gene leads to a partial disruption of prosaposin trafficking to the lysosomes, Exp. Cell Res., 315, 3112, 10.1016/j.yexcr.2009.08.016
Linsel-Nitschke, 2010, Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease, Atherosclerosis., 208, 183, 10.1016/j.atherosclerosis.2009.06.034
Gupta, 2010, Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica, Hum. Genet., 128, 557, 10.1007/s00439-010-0887-3
Nakayama, 2009, Large scale replication analysis of loci associated with lipid concentrations in a Japanese population, J. Med. Genet., 46, 370, 10.1136/jmg.2008.064063
Hegedus, 2006, Tribbles: novel regulators of cell function; evolutionary aspects, Cell. Mol. Life Sci., 63, 1632, 10.1007/s00018-006-6007-9
Burkhardt, 2010, Trib1 is a lipid- and myocardial infarction-associated gene that regulates hepatic lipogenesis and VLDL production in mice, J. Clin. Invest., 120, 4410, 10.1172/JCI44213
Sung, 2007, Human tribbles-1 controls proliferation and chemotaxis of smooth muscle cells via MAPK signaling pathways, J. Biol. Chem., 282, 18379, 10.1074/jbc.M610792200
Varbo, 2011, TRIB1 and GCKR polymorphisms, lipid levels, and risk of ischemic heart disease in the general population, Arterioscler. Thromb. Vasc. Biol., 31, 451, 10.1161/ATVBAHA.110.216333
Boswell, 2004, Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair, J. Biol. Chem., 279, 30611, 10.1074/jbc.M401412200
Huang, 2010, Mechanism of LDL binding and release probed by structure-based mutagenesis of the LDL receptor, J. Lipid Res., 51, 297, 10.1194/jlr.M000422
Ranheim, 2006, Model system for phenotypic characterization of sequence variations in the LDL receptor gene, Clin. Chem., 52, 1469, 10.1373/clinchem.2006.068627
Tveten, 2007, 4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor, FEBS J., 274, 1881, 10.1111/j.1742-4658.2007.05735.x
Zhao, 2009, The role of calcium in lipoprotein release by the low-density lipoprotein receptor, Biochemistry., 48, 7313, 10.1021/bi900214u
Kwon, 2009, Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol, Cell., 137, 1213, 10.1016/j.cell.2009.03.049
Urano, 2008, Transport of LDL-derived cholesterol from the NPC1 compartment to the ER involves the trans-Golgi network and the SNARE protein complex, Proc. Natl. Acad. Sci. USA., 105, 16513, 10.1073/pnas.0807450105
Wang, 2010, Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes, Cell Metab., 12, 166, 10.1016/j.cmet.2010.05.016
Leigh, 2008, Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database, Ann. Hum. Genet., 72, 485, 10.1111/j.1469-1809.2008.00436.x
Leigh, 2009, Commentary PCSK9 variants: a new database, Atherosclerosis., 203, 32, 10.1016/j.atherosclerosis.2009.02.006
Marduel, 2010, Molecular spectrum of autosomal dominant hypercholesterolemia in France, Hum. Mutat., 31, E1811, 10.1002/humu.21348
Fouchier, 2005, Update of the molecular basis of familial hypercholesterolemia in The Netherlands, Hum. Mutat., 26, 550, 10.1002/humu.20256
Abifadel, 2009, The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene, Hum. Mutat., 30, E682, 10.1002/humu.21002
Dedoussis, 2004, LDL-receptor mutations in Europe, Hum. Mutat., 24, 443, 10.1002/humu.20105
Durst, 2001, Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews, Am. J. Hum. Genet., 68, 1172, 10.1086/320123
Lombardi, 2000, Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands, Clin. Genet., 57, 116, 10.1034/j.1399-0004.2000.570205.x
Whittall, 2002, The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels, J. Med. Genet., 39, e57, 10.1136/jmg.39.9.e57
Bourbon, 2009, Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations, J. Med. Genet., 46, 352, 10.1136/jmg.2007.057000
Rabacchi, 2009, An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia, Clin. Chim. Acta., 406, 75, 10.1016/j.cca.2009.05.017
Chmara, 2010, Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations, J. Appl. Genet., 51, 95, 10.1007/BF03195716
Holla, 2005, Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA, Clin. Chim. Acta., 356, 164, 10.1016/j.cccn.2005.01.028
Taylor, 2009, Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia, Clin. Genet., 76, 69, 10.1111/j.1399-0004.2009.01168.x
Tosi, 2007, 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, Atherosclerosis., 194, 102, 10.1016/j.atherosclerosis.2006.10.003
Wang, 2005, Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia, J. Lipid Res., 46, 366, 10.1194/jlr.D400030-JLR200
Chiou, 2010, Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia, Am. J. Cardiol., 105, 1752, 10.1016/j.amjcard.2010.01.356
Bourbon, 2007, A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing, Atherosclerosis., 195, e17, 10.1016/j.atherosclerosis.2007.01.034
Defesche, 2008, Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing, Clin. Genet., 73, 573, 10.1111/j.1399-0004.2008.00999.x
Civeira, 2008, Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting, J. Am. Coll. Cardiol., 52, 1546, 10.1016/j.jacc.2008.06.050
Bertolini, 2000, Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype, Arterioscler. Thromb. Vasc. Biol., 20, E41, 10.1161/01.ATV.20.9.e41
Pisciotta, 2006, Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison, Atherosclerosis., 188, 398, 10.1016/j.atherosclerosis.2005.11.016
Junyent, 2008, Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect, Arterioscler. Thromb. Vasc. Biol., 28, 580, 10.1161/ATVBAHA.107.153841
Deiana, 2000, Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia: a study of patients with familial hypercholesterolemia from Sardinia, Arterioscler. Thromb. Vasc. Biol., 20, 236, 10.1161/01.ATV.20.1.236
Ricchi, 2009, Hypocholesterolemia in adult patients with thalassemia: a link with the severity of genotype in thalassemia intermedia patients, Eur. J. Haematol., 82, 219, 10.1111/j.1600-0609.2008.01195.x
Shalev, 2007, Hypocholesterolemia in chronic anemias with increased erythropoietic activity, Am. J. Hematol., 82, 199, 10.1002/ajh.20804
Chebil-Laradi, 1994, [Screening of hemoglobinopathies and molecular analysis of beta-thalassemia in Central Tunisia], Arch. Pediatr., 1, 1100
Jelassi, 2010, Moderate phenotypic expression of familial hypercholesterolemia in Tunisia, Clin. Chim. Acta., 411, 735, 10.1016/j.cca.2010.02.008
Vuorio, 1997, Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study, Arterioscler. Thromb. Vasc. Biol., 17, 3127, 10.1161/01.ATV.17.11.3127
Lambert, 2001, Determinants of lipid level variability in French-Canadian children with familial hypercholesterolemia, Arterioscler. Thromb. Vasc. Biol., 21, 979, 10.1161/01.ATV.21.6.979
Bertolini, 2004, Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia, Atherosclerosis., 174, 57, 10.1016/j.atherosclerosis.2003.12.037
Dong, 1994, Human apolipoprotein E. Role of arginine 61 in mediating the lipoprotein preferences of the E3 and E4 isoforms, J. Biol. Chem., 269, 22358, 10.1016/S0021-9258(17)31797-0
Wilson, 1991, Three-dimensional structure of the LDL receptor-binding domain of human apolipoprotein E, Science., 252, 1817, 10.1126/science.2063194
Altenburg, 2008, Human LDL receptor enhances sequestration of ApoE4 and VLDL remnants on the surface of hepatocytes but not their internalization in mice, Arterioscler. Thromb. Vasc. Biol., 28, 1104, 10.1161/ATVBAHA.108.164863
Klos, 2008, APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels, Hum. Mol. Genet., 17, 2039, 10.1093/hmg/ddn101
de Man, 1998, Effect of apolipoprotein E variants on lipolysis of very low density lipoproteins by heparan sulphate proteoglycan-bound lipoprotein lipase, Atherosclerosis., 136, 255, 10.1016/S0021-9150(97)00218-9
Futamura, 2005, Two-step mechanism of binding of apolipoprotein E to heparin: implications for the kinetics of apolipoprotein E-heparan sulfate proteoglycan complex formation on cell surfaces, J. Biol. Chem., 280, 5414, 10.1074/jbc.M411719200
Yamauchi, 2008, Role of the N- and C-terminal domains in binding of apolipoprotein E isoforms to heparan sulfate and dermatan sulfate: a surface plasmon resonance study, Biochemistry., 47, 6702, 10.1021/bi8003999
Yu, 2001, LDL receptor-related protein mediates cell-surface clustering and hepatic sequestration of chylomicron remnants in LDLR-deficient mice, J. Clin. Invest., 107, 1387, 10.1172/JCI11750
Knouff, 2001, Doubling expression of the low density lipoprotein receptor by truncation of the 3 ′ -untranslated region sequence ameliorates type iii hyperlipoproteinemia in mice expressing the human apoe2 isoform, J. Biol. Chem., 276, 3856, 10.1074/jbc.M009423200
Malloy, 2004, Harmful effects of increased LDLR expression in mice with human APOE*4 but not APOE*3, Arterioscler. Thromb. Vasc. Biol., 24, 91, 10.1161/01.ATV.0000094963.07902.FB
Heeren, 2004, Impaired recycling of apolipoprotein E4 is associated with intracellular cholesterol accumulation, J. Biol. Chem., 279, 55483, 10.1074/jbc.M409324200
Mann, 1995, Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146 → Glu), J. Clin. Invest., 96, 1100, 10.1172/JCI118096
Tybjaerg-Hansen, 2005, Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations, Arterioscler. Thromb. Vasc. Biol., 25, 211, 10.1161/01.ATV.0000149380.94984.f0
Blasiole, 2008, Regulation of ApoB secretion by the low density lipoprotein receptor requires exit from the endoplasmic reticulum and interaction with ApoE or ApoB, J. Biol. Chem., 283, 11374, 10.1074/jbc.M710457200
Larsson, 2004, The low density lipoprotein receptor prevents secretion of dense apoB100-containing lipoproteins from the liver, J. Biol. Chem., 279, 831, 10.1074/jbc.M303057200
Millar, 2005, Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production, Arterioscler. Thromb. Vasc. Biol., 25, 560, 10.1161/01.ATV.0000155323.18856.a2
Tremblay, 2004, Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation, J. Lipid Res., 45, 866, 10.1194/jlr.M300448-JLR200
Michaely, 2007, Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR, EMBO J., 26, 3273, 10.1038/sj.emboj.7601769
Linsel-Nitschke, 2008, Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease–a Mendelian Randomisation study, PLoS ONE., 3, e2986, 10.1371/journal.pone.0002986
Zhu, 2007, A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol, Hum. Mol. Genet., 16, 1765, 10.1093/hmg/ddm124
Zou, 2008, Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer’s disease, Hum. Mol. Genet., 17, 929, 10.1093/hmg/ddm365
Marcel, 1982, Mapping of antigenic determinants of human apolipoprotein B using monoclonal antibodies against low density lipoproteins, J. Biol. Chem., 257, 13165, 10.1016/S0021-9258(18)33420-3
Milne, 1989, The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B, J. Biol. Chem., 264, 19754, 10.1016/S0021-9258(19)47176-7
Pease, 1990, Use of bacterial expression cloning to localize the epitopes for a series of monoclonal antibodies against apolipoprotein B100, J. Biol. Chem., 265, 553, 10.1016/S0021-9258(19)40266-4
Law, 1990, A cross-species comparison of the apolipoprotein B domain that binds to the LDL receptor, J. Lipid Res., 31, 1109, 10.1016/S0022-2275(20)42751-8
Borén, 1998, Identification of the principal proteoglycan-binding site in LDL. A single-point mutation in apo-B100 severely affects proteoglycan interaction without affecting LDL receptor binding, J. Clin. Invest., 101, 2658, 10.1172/JCI2265
Johnson, 2008, Absence of hyperlipidemia in LDL receptor-deficient mice having apolipoprotein B100 without the putative receptor-binding sequences, Arterioscler. Thromb. Vasc. Biol., 28, 1745, 10.1161/ATVBAHA.108.169680
Chatterton, 1995, Immunoelectron microscopy of low density lipoproteins yields a ribbon and bow model for the conformation of apolipoprotein B on the lipoprotein surface, J. Lipid Res., 36, 2027, 10.1016/S0022-2275(20)41120-4
Borén, 2001, The molecular mechanism for the genetic disorder familial defective apolipoprotein B100, J. Biol. Chem., 276, 9214, 10.1074/jbc.M008890200
Gabelli, 1996, Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova, Arterioscler. Thromb. Vasc. Biol., 16, 1189, 10.1161/01.ATV.16.9.1189
Parhofer, 1990, Enhanced clearance from plasma of low density lipoproteins containing a truncated apolipoprotein, apoB-89, J. Lipid Res., 31, 2001, 10.1016/S0022-2275(20)42264-3
Soria, 1989, Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100, Proc. Natl. Acad. Sci. USA., 86, 587, 10.1073/pnas.86.2.587
Real, 2003, Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population, Eur. J. Hum. Genet., 11, 959, 10.1038/sj.ejhg.5201079
Viola, 2001, Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study, J. Pediatr. Gastroenterol. Nutr., 33, 122, 10.1097/00005176-200108000-00005
Gasparovic, 2007, Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?, Atherosclerosis., 194, e95, 10.1016/j.atherosclerosis.2006.10.015
Bourbon, 2008, Familial hypercholesterolaemia in Portugal, Atherosclerosis., 196, 633, 10.1016/j.atherosclerosis.2007.07.019
Dedoussis, 2004, Molecular characterization of familial hypercholesterolemia in German and Greek patients, Hum. Mutat., 23, 285, 10.1002/humu.9218
Taylor, 2007, Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia, Clin. Genet., 71, 561, 10.1111/j.1399-0004.2007.00807.x
Tai, 2001, Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia, Clin. Chem., 47, 438, 10.1093/clinchem/47.3.438
Yang, 2007, LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population, J. Formos. Med. Assoc., 106, 799, 10.1016/S0929-6646(08)60044-3
Shen, 2010, Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish, Arch. Intern. Med., 170, 1850, 10.1001/archinternmed.2010.384
Miserez, 1994, High prevalence of familial defective apolipoprotein B-100 in Switzerland, J. Lipid Res., 35, 574, 10.1016/S0022-2275(20)41171-X
Humphries, 2006, Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing, J. Mol. Med., 84, 203, 10.1007/s00109-005-0019-z
Liyanage, 2008, High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations, Ann. Clin. Biochem., 45, 170, 10.1258/acb.2007.007077
Benlian, 1996, Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100, Hum. Mutat., 7, 340, 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C
Taylor, 2010, A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100, Ann. Clin. Biochem., 47, 487, 10.1258/acb.2010.010089
Rubinsztein, 1993, Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100, Arterioscler. Thromb., 13, 1076, 10.1161/01.ATV.13.7.1076
Benn, 2005, Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor, J. Biol. Chem., 280, 21052, 10.1074/jbc.M413877200
Hansen, 1997, Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries, Arterioscler. Thromb. Vasc. Biol., 17, 741, 10.1161/01.ATV.17.4.741
Pullinger, 1999, The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds, J. Lipid Res., 40, 318, 10.1016/S0022-2275(20)33372-1
Rabès, 2000, R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia, Arterioscler. Thromb. Vasc. Biol., 20, E76, 10.1161/01.ATV.20.10.e76
Wenham, 1997, Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK, Atherosclerosis., 129, 185, 10.1016/S0021-9150(96)06029-7
Medeiros, 2010, Update of the Portuguese Familial Hypercholesterolaemia Study, Atherosclerosis., 212, 553, 10.1016/j.atherosclerosis.2010.07.012
Harada-Shiba, 1992, Siblings with normal LDL receptor activity and severe hypercholesterolemia, Arterioscler. Thromb., 12, 1071, 10.1161/01.ATV.12.9.1071
Zuliani, 1999, Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia, Arterioscler. Thromb. Vasc. Biol., 19, 802, 10.1161/01.ATV.19.3.802
Norman, 1999, Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia, J. Clin. Invest., 104, 619, 10.1172/JCI6677
Jones, 2007, Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia, J. Clin. Invest., 117, 165, 10.1172/JCI29415
Abera, 2007, Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype, Clin. Chim. Acta., 378, 33, 10.1016/j.cca.2006.10.005
Arca, 2002, Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis, Lancet., 359, 841, 10.1016/S0140-6736(02)07955-2
Harada-Shiba, 2003, Clinical features and genetic analysis of autosomal recessive hypercholesterolemia, J. Clin. Endocrinol. Metab., 88, 2541, 10.1210/jc.2002-021487
Lind, 2004, Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment, J. Intern. Med., 256, 406, 10.1111/j.1365-2796.2004.01401.x
Quagliarini, 2007, Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene, Mol. Genet. Metab., 92, 243, 10.1016/j.ymgme.2007.06.012
Rodenburg, 2004, A boy with autosomal recessive hypercholesterolaemia, Neth. J. Med., 62, 89
Thomas, 2004, Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures, Ther. Apher. Dial., 8, 275, 10.1111/j.1526-0968.2004.00143.x
Al-Kateb, 2003, A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA, Circ. Res., 93, e49, 10.1161/01.RES.0000089508.53350.70
Eden, 2002, Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1, J. Clin. Invest., 110, 1695, 10.1172/JCI0216445
Garcia, 2001, Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein, Science., 292, 1394, 10.1126/science.1060458
Wilund, 2002, Molecular mechanisms of autosomal recessive hypercholesterolemia, Hum. Mol. Genet., 11, 3019, 10.1093/hmg/11.24.3019
Filigheddu, 2009, Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia, Atherosclerosis., 207, 162, 10.1016/j.atherosclerosis.2009.04.027
Ni, 2011, A PCSK9-binding antibody that structurally mimics the EGF(A) domain of LDL-receptor reduces LDL cholesterol in vivo, J. Lipid Res., 52, 78, 10.1194/jlr.M011445
Abifadel, 2010, Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents, Expert Opin. Ther. Pat., 20, 1547, 10.1517/13543776.2010.518615
Duff, 2011, PCSK9: an emerging target for treatment of hypercholesterolemia, Expert Opin. Ther. Targets., 15, 157, 10.1517/14728222.2011.547480
Horton, 2009, PCSK9: a convertase that coordinates LDL catabolism, J. Lipid Res., 50, S172, 10.1194/jlr.R800091-JLR200
Browning, 2010, Fasting reduces plasma proprotein convertase, subtilisin/kexin type 9 and cholesterol biosynthesis in humans, J. Lipid Res., 51, 3359, 10.1194/jlr.P009860
Persson, 2010, Circulating proprotein convertase subtilisin kexin type 9 has a diurnal rhythm synchronous with cholesterol synthesis and is reduced by fasting in humans, Arterioscler. Thromb. Vasc. Biol., 30, 2666, 10.1161/ATVBAHA.110.214130
Herbert, 2010, Increased secretion of lipoproteins in transgenic mice expressing human D374Y PCSK9 under physiological genetic control, Arterioscler. Thromb. Vasc. Biol., 30, 1333, 10.1161/ATVBAHA.110.204040
Welder, 2010, High-dose atorvastatin causes a rapid sustained increase in human serum PCSK9 and disrupts its correlation with LDL cholesterol, J. Lipid Res., 51, 2714, 10.1194/jlr.M008144
Dong, 2010, Strong induction of PCSK9 gene expression through HNF1alpha and SREBP2: mechanism for the resistance to LDL-cholesterol lowering effect of statins in dyslipidemic hamsters, J. Lipid Res., 51, 1486, 10.1194/jlr.M003566
Ouguerram, 2004, Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9, Arterioscler. Thromb. Vasc. Biol., 24, 1448, 10.1161/01.ATV.0000133684.77013.88
Rashid, 2005, Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9, Proc. Natl. Acad. Sci. USA., 102, 5374, 10.1073/pnas.0501652102
Le May, 2009, Proprotein convertase subtilisin kexin type 9 null mice are protected from postprandial triglyceridemia, Arterioscler. Thromb. Vasc. Biol., 29, 684, 10.1161/ATVBAHA.108.181586
Abifadel, 2009, Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease, Hum. Mutat., 30, 520, 10.1002/humu.20882
Fasano, 2009, Degradation of LDLR protein mediated by ‘gain of function’ PCSK9 mutants in normal and ARH cells, Atherosclerosis., 203, 166, 10.1016/j.atherosclerosis.2008.10.027
Pandit, 2008, Functional analysis of sites within PCSK9 responsible for hypercholesterolemia, J. Lipid Res., 49, 1333, 10.1194/jlr.M800049-JLR200
Abifadel, 2003, Mutations in PCSK9 cause autosomal dominant hypercholesterolemia, Nat. Genet., 34, 154, 10.1038/ng1161
Allard, 2005, Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia, Hum. Mutat., 26, 497, 10.1002/humu.9383
Taylor, 2010, Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project, Clin. Genet., 77, 572, 10.1111/j.1399-0004.2009.01356.x
van der Graaf, 2011, Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children, Circulation., 123, 1167, 10.1161/CIRCULATIONAHA.110.979450
Pisciotta, 2006, Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia, Atherosclerosis., 186, 433, 10.1016/j.atherosclerosis.2005.08.015
Cohen, 2005, Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9, Nat. Genet., 37, 161, 10.1038/ng1509
Zhao, 2006, Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote, Am. J. Hum. Genet., 79, 514, 10.1086/507488
Fasano, 2007, A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol, Arterioscler. Thromb. Vasc. Biol., 27, 677, 10.1161/01.ATV.0000255311.26383.2f
Cariou, 2009, PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia, Arterioscler. Thromb. Vasc. Biol., 29, 2191, 10.1161/ATVBAHA.109.194191
Lakoski, 2009, Genetic and metabolic determinants of plasma PCSK9 levels, J. Clin. Endocrinol. Metab., 94, 2537, 10.1210/jc.2009-0141
Zelcer, 2009, LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor, Science., 325, 100, 10.1126/science.1168974
Matsuoka, 2010, Competitive solubilization of cholesterol and six species of sterol/stanol in bile salt micelles, Chem. Phys. Lipids., 163, 397, 10.1016/j.chemphyslip.2010.03.006
Amiot, 2011, Phytosterol ester processing in the small intestine: impact on cholesterol availability for absorption and chylomicron cholesterol incorporation in healthy humans, J. Lipid Res., 52, 1256, 10.1194/jlr.M013730
Jones, 2009, Phytosterols as functional food ingredients: linkages to cardiovascular disease and cancer, Curr. Opin. Clin. Nutr. Metab. Care., 12, 147, 10.1097/MCO.0b013e328326770f
Brufau, 2011, A reappraisal of the mechanism by which plant sterols promote neutral sterol loss in mice, PLoS ONE., 6, e21576, 10.1371/journal.pone.0021576
Lin, 2011, Combined effects of ezetimibe and phytosterols on cholesterol metabolism: a randomized, controlled feeding study in humans, Circulation., 124, 596, 10.1161/CIRCULATIONAHA.110.006692
Kwon, 2011, The structure of the NPC1L1 N-terminal domain in a closed conformation, PLoS ONE., 6, e18722, 10.1371/journal.pone.0018722
Wang, 2009, Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption, J. Lipid Res., 50, 1653, 10.1194/jlr.M800669-JLR200
Betters, 2010, NPC1L1 and cholesterol transport, FEBS Lett., 584, 2740, 10.1016/j.febslet.2010.03.030
Weinglass, 2008, Extracellular loop C of NPC1L1 is important for binding to ezetimibe, Proc. Natl. Acad. Sci. USA., 105, 11140, 10.1073/pnas.0800936105
Read, 2000, A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein, J. Biol. Chem., 275, 30372, 10.1074/jbc.C000364200
Shoulders, 2005, Current biology of MTP: implications for selective inhibition, Curr. Top. Med. Chem., 5, 283, 10.2174/1568026053544560
Zhang, 2007, Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation, J. Biol. Chem., 282, 18602, 10.1074/jbc.M702027200
Cunningham, 2007, Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia, Nat. Struct. Mol. Biol., 14, 413, 10.1038/nsmb1235
Fisher, 2006, Structure of an LDLR-RAP complex reveals a general mode for ligand recognition by lipoprotein receptors, Mol. Cell., 22, 277, 10.1016/j.molcel.2006.02.021
Mann, 1989, Apolipoprotein E-1Harrisburg: a new variant of apolipoprotein E dominantly associated with type III hyperlipoproteinemia, Biochim. Biophys. Acta., 1005, 239, 10.1016/0005-2760(89)90043-X
Moriyama, 1992, Apolipoprotein E1 Lys-146-Glu with type III hyperlipoproteinemia, Biochim. Biophys. Acta., 1128, 58, 10.1016/0005-2760(92)90257-V
Hoffer, 1996, Apolipoprotein E1-Hammersmith (Lys146 → Asn;Arg147 → Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia, Atherosclerosis., 124, 183, 10.1016/0021-9150(96)05819-4
Dong, 1996, Human apolipoprotein E4 domain interaction. Arginine 61 and glutamic acid 255 interact to direct the preference for very low density lipoproteins, J. Biol. Chem., 271, 19053, 10.1074/jbc.271.32.19053
Hatters, 2005, Modulation of apolipoprotein E structure by domain interaction: differences in lipid-bound and lipid-free forms, J. Biol. Chem., 280, 34288, 10.1074/jbc.M506044200
Nguyen, 2010, Molecular basis for the differences in lipid and lipoprotein binding properties of human apolipoproteins E3 and E4, Biochemistry., 49, 10881, 10.1021/bi1017655
Tetali, 2010, VLDL lipolysis products increase VLDL fluidity and convert apolipoprotein E4 into a more expanded conformation, J. Lipid Res., 51, 1273, 10.1194/jlr.M000406
Guttman, 2010, Decoding of lipoprotein-receptor interactions: properties of ligand binding modules governing interactions with apolipoprotein E, Biochemistry., 49, 1207, 10.1021/bi9017208
Sivashanmugam, 2009, A unified scheme for initiation and conformational adaptation of human apolipoprotein E N-terminal domain upon lipoprotein binding and for receptor binding activity, J. Biol. Chem., 284, 14657, 10.1074/jbc.M901012200
Morrow, 2000, Effect of arginine 172 on the binding of apolipoprotein E to the low density lipoprotein receptor, J. Biol. Chem., 275, 2576, 10.1074/jbc.275.4.2576
Croy, 2004, Two apolipoprotein E mimetic peptides, ApoE(130-149) and ApoE(141-155)2, bind to LRP1, Biochemistry., 43, 7328, 10.1021/bi036208p
Guttman, 2010, Structure of the minimal interface between ApoE and LRP, J. Mol. Biol., 398, 306, 10.1016/j.jmb.2010.03.022
Ruiz, 2005, The apoE isoform binding properties of the VLDL receptor reveal marked differences from LRP and the LDL receptor, J. Lipid Res., 46, 1721, 10.1194/jlr.M500114-JLR200
Sanna, 2011, Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability, PLoS Genet., 7, e1002198, 10.1371/journal.pgen.1002198
Koeijvoets, 2005, Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study, Atherosclerosis., 180, 93, 10.1016/j.atherosclerosis.2004.10.042
Koeijvoets, 2005, Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial, Circulation., 112, 3168, 10.1161/CIRCULATIONAHA.105.565507
Guardamagna, 2009, The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia, J. Pediatr., 155, 199, 10.1016/j.jpeds.2009.02.022
Ceska, 2000, Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients, Physiol. Res., 49, S125
Leren, 2004, Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia, Clin. Genet., 65, 419, 10.1111/j.0009-9163.2004.0238.x
Naoumova, 2005, Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response, Arterioscler. Thromb. Vasc. Biol., 25, 2654, 10.1161/01.ATV.0000190668.94752.ab
Ken-Dror, 2010, APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men, Mol. Med., 16, 389, 10.2119/molmed.2010.00044
Waterworth, 2010, Genetic variants influencing circulating lipid levels and risk of coronary artery disease, Arterioscler. Thromb. Vasc. Biol., 30, 2264, 10.1161/ATVBAHA.109.201020
Ward, 2009, APOE genotype, lipids, and coronary heart disease risk: a prospective population study, Arch. Intern. Med., 169, 1424, 10.1001/archinternmed.2009.234
Burman, 2009, Relationship of the ApoE polymorphism to plasma lipid traits among South Asians, Chinese, and Europeans living in Canada, Atherosclerosis., 203, 192, 10.1016/j.atherosclerosis.2008.06.007
Mega, 2009, Identification of genetic variants associated with response to statin therapy, Arterioscler. Thromb. Vasc. Biol., 29, 1310, 10.1161/ATVBAHA.109.188474
Huang, 2009, Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study, Circ. Cardiovasc. Genet., 2, 354, 10.1161/CIRCGENETICS.108.828467
Cohen, 2006, Sequence variations in PCSK9, low LDL, and protection against coronary heart disease, N. Engl. J. Med., 354, 1264, 10.1056/NEJMoa054013
Chen, 2005, A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis, J. Am. Coll. Cardiol., 45, 1611, 10.1016/j.jacc.2005.01.051
Guella, 2010, Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population, J. Lipid Res., 51, 3342, 10.1194/jlr.M010009
Chasman, 2008, Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication, Circ. Cardiovasc. Genet., 1, 21, 10.1161/CIRCGENETICS.108.773168
Benn, 2010, PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses, J. Am. Coll. Cardiol., 55, 2833, 10.1016/j.jacc.2010.02.044
Miljkovic, 2010, Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry, J. Lipid Res., 51, 1823, 10.1194/jlr.M003897