Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism

Critical Reviews in Clinical Laboratory Sciences

Volumn 42, Issue 5-6, 2005, Pages 515-545

  Hooper, Amanda J ^a,b   Van Bockxmeer, Frank M ^a,b   Burnett, John R ^b,c  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b ROYAL PERTH HOSPITAL   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Abetalipoproteinaemia; Cholesterol; Familial hypobetalipoproteinaemia; Fatty liver; Genetics; Low density lipoprotein; Microsomal triglyceride transfer protein; Molecular mechanisms; Mouse models; Regulation; Very low density lipoprotein

Indexed keywords

ALPHA TOCOPHEROL; APOLIPOPROTEIN B; APOLIPOPROTEIN B48; CHYLOMICRON; MESSENGER RNA; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; RETINOL; VERY LOW DENSITY LIPOPROTEIN;

ABETALIPOPROTEINEMIA; CHEMICAL ANALYSIS; DYSLIPIDEMIA; FAMILY; FATTY LIVER; GENE MUTATION; GENETIC VARIABILITY; GENETICS; HUMAN; HYPOBETALIPOPROTEINEMIA; HYPOCHOLESTEROLEMIA; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN METABOLISM; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN METABOLISM; PROTEIN SECRETION; PROTEIN STRUCTURE; PROTEIN TRANSPORT; RECEPTOR AFFINITY; RETINA DEGENERATION; REVIEW; STEATOSIS; SYNTHESIS;

ABETALIPOPROTEINEMIA; ANIMALS; APOLIPOPROTEINS B; CHOLESTEROL, VLDL; GENE EXPRESSION REGULATION; HUMANS; MUTATION; RECEPTORS, LIPOPROTEIN;

EID: 30344464375     PISSN: 10408363     EISSN: None     Source Type: Journal    
DOI: 10.1080/10408360500295113     Document Type: Review

References (212)

1. Hegele RA. Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism. Am J Hum Genet 2001; 69: 1161-1177.
2. Kane JP, Hardman DA, Paulus HE. Heterogeneity of apolipoprotein B: isolation of a new species from human chylomicrons. Proc Natl Acad Sci USA 1980; 77: 2465-2469.
3. Young SG, Bertics SJ, Scott TM, Dubois BW, Curtiss LK, Witztum JL. Parallel expression of the MB19 genetic polymorphism in apoprotein B-100 and apoprotein B-48. Evidence that both apoproteins are products of the same gene. J Biol Chem 1986; 261: 2995-2998.
4. Chen SH, Habib G, Yang CY, Gu ZW, Lee BR, Weng SA, Silberman SR, Cai SJ, Deslypere JP, Rosseneu M, et al. Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon. Science 1987; 238: 363-366.
5. Powell LM, Wallis SC, Pease RJ, Edwards YH, Knott TJ, Scott J. A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine. Cell 1987; 50: 831-840.
6. Jackson KG, Williams CM. Apolipoprotein B-48: comparison of fasting concentrations measured in normolipidaemic individuals using SDS-PAGE, immunoblotting and ELISA. Atherosclerosis 2004; 176: 207-217.
7. Deeb SS, Disteche C, Motulsky AG, Lebo RV, Kan YW. Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine. Proc Natl Acad Sci USA 1986; 83: 419-422.
8. Blackhart BD, Ludwig EM, Pierotti VR, Caiati L, Onasch MA, Wallis SC, Powell L, Pease R, Knott TJ, Chu ML, et al. Structure of the human apolipoprotein B gene. J Biol Chem 1986; 261: 15364-15367.
9. Chen SH, Yang CY, Chen PF, Setzer D, Tanimura M, Li WH, Gotto AM, Jr., Chan L. The complete cDNA and amino acid sequence of human apolipoprotein B-100. J Biol Chem 1986; 261: 12918-129121.
10. Allison AC, Blumberg BS. An isoprecipitation reaction distinguishing human serum-protein types. Lancet 1961; 1: 634-637.
11. Boerwinkle E, Chan L. A three codon insertion/deletion polymorphism in the signal peptide region of the human apolipoprotein B (APOB) gene directly typed by the polymerase chain reaction. Nucleic Acids Res 1989; 17: 4003.
12. Turner PR, Talmud PJ, Visvikis S, Ehnholm C, Tiret L. DNA polymorphisms of the apoprotein B gene are associated with altered plasma lipoprotein concentrations but not with perceived risk of cardiovascular disease. European Atherosclerosis Research Study. Atherosclerosis 1995; 116: 221-234.
13. Boekholdt SM, Peters RJ, Fountoulaki K, Kastelein JJ, Sijbrands EJ. Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis. Hum Genet 2003; 113: 417-425.
14. Boerwinkle E, Xiong WJ, Fourest E, Chan L. Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3′ hypervariable region. Proc Natl Acad Sci USA 1989; 86: 212-226.
15. Hixson JE, Powers PK, McMahan CA. The human apolipoprotein B 3′ hypervariable region: detection of eight new alleles and comparisons of allele frequencies in blacks and whites. Hum Genet 1993; 91: 475-479.
16. Ludwig EH, Friedl W, McCarthy BJ. High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am J Hum Genet 1989; 45:458-464.
17. Navaratnam N, Morrison JR, Bhattacharya S, Patel D, Funahashi T, Giannoni F, Teng BB, Davidson NO, Scott J. The p27 catalytic subunit of the apolipoprotein B mRNA editing enzyme is a cytidine deaminase. J Biol Chem 1993; 268: 20709-20712.
18. Oka K, Kobayashi K, Sullivan M, Martinez J, Teng BB, Ishimura-Oka K, Chan L. Tissue-specific inhibition of apolipoprotein B mRNA editing in the liver by adenovirus-mediated transfer of a dominant negative mutant APOBEC-1 leads to increased low density lipoprotein in mice. J Biol Chem 1997; 272: 1456-1460.
19. Mehta A, Kinter MT, Sherman NE, Driscoll DM. Molecular cloning of apobec-1 complementation factor, a novel RNA-binding protein involved in the editing of apolipoprotein B mRNA. Mol Cell Biol 2000; 20: 1846-1854.
20. Lellek H, Kirsten R, Diehl I, Apostel F, Buck F, Greeve J. Purification and molecular cloning of a novel essential component of the apolipoprotein B mRNA editing enzyme-complex. J Biol Chem 2000; 275: 19848-19856.
21. Anant S, Henderson JO, Mukhopadhyay D, Navaratnam N, Kennedy S, Min J, Davidson NO. Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor. J Biol Chem 2001; 276: 47338-47351.
22. Anant S, Davidson NO. An AU-rich sequence element (UUUN [A/U] U) downstream of the edited C in apolipoprotein B mRNA is a high-affinity binding site for Apobec-1: binding of Apobec-1 to this motif in the 3′ untranslated region of c-myc increases mRNA stability. Mol Cell Biol 2000; 20: 1982-1992.
23. Mukhopadhyay D, Anant S, Lee RM, Kennedy S, Viskochil D, Davidson NO. C-→U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme. Am J Hum Genet 2002; 70: 38-50.
24. Pullinger CR, North JD, Teng BB, Rifici VA, Ronhild de Brito AE, Scott J. The apolipoprotein B gene is constitutively expressed in HepG2 cells: regulation of secretion by oleic acid, albumin, and insulin, and measurement of the mRNA half-life. J Lipid Res 1989; 30: 1065-1077.
25. Boren J, Veniant MM, Young SG. Apo B100-containing lipoproteins are secreted by the heart. J Clin Invest 1998; 101: 1197-1202.
26. Teng B, Verp M, Salomon J, Davidson NO. Apolipoprotein B messenger RNA editing is developmentally regulated and widely expressed in human tissues. J Biol Chem 1990; 265: 20616-20620.
27. Sivaram P, Vanni-Reyes T, Goldberg IJ. Endothelial cells synthesize and process apolipoprotein B. J Biol Chem 1996; 271: 15261-15266.
28. Nielsen LB, Veniant M, Boren J, Raabe M, Wong JS, Tam C, Flynn L, Vanni-Reyes T, Gunn MD, Goldberg IJ, Hamilton RL, Young SG. 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 1998; 98: 13-16.
29. Nielsen LB. Lipoprotein production by the heart: a novel pathway of triglyceride export from cardiomyocytes. Scand J Clin Lab Invest Suppl 2002; 237:35-40.
30. Madsen EM, Lindegaard ML, Andersen CB, Damm P, Nielsen LB. Human placenta secretes apolipoprotein B-100-containing lipoproteins. J Biol Chem 2004; 279: 55271-55276.
31. Wang AB, Liu DP, Liang CC. Regulation of human apolipoprotein B gene expression at multiple levels. Exp Cell Res 2003; 290: 1-12.
32. Yang CY, Gu ZW, Weng SA, Kim TW, Chen SH, Pownall HJ, Sharp PM, Liu SW, Li WH, Gotto AM, Jr., et al. Structure of apolipoprotein B-100 of human low density lipoproteins. Arteriosclerosis 1989; 9: 96-108.
33. Swaminathan N, Aladjem F. The monosaccharide composition and sequence of the carbohydrate moiety of human serum low density lipoproteins. Biochemistry 1976; 15: 1516-1522.
34. De Loof H, Rosseneu M, Yang CY, Li WH, Gotto AM, Jr., Chan L. Human apolipoprotein B: analysis of internal repeats and homology with other apolipoproteins. J Lipid Res 1987; 28: 1455-1465.
35. Segrest JP, Jones MK, Dashti N. N-terminal domain of apolipoprotein B has structural homology to lipovitellin and microsomal triglyceride transfer protein: a "lipid pocket" model for self-assembly of apob-containing lipoprotein particles. J Lipid Res 1999; 40: 1401-1416.
36. Segrest JP, Jones MK, De Loof H, Dashti N. Structure of apolipoprotein B-100 in low density lipoproteins. J Lipid Res 2001; 42: 1346-1367.
37. Milne R, Theolis R, Jr., Maurice R, Pease RJ, Weech PK, Rassart E, Fruchart JC, Scott J, Marcel YL. The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B. J Biol Chem 1989; 264: 19754-19760.
38. Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 1989; 86: 587-591.
39. Knott TJ, Pease RJ, Powell LM, Wallis SC, Rall SC, Jr., Innerarity TL, Blackhart B, Taylor WH, Marcel Y, Milne R, et al. Complete protein sequence and identification of structural domains of human apolipoprotein B. Nature 1986; 323: 734-738.
40. Boren J, Lee I, Zhu W, Arnold K, Taylor S, Innerarity TL. Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100. J Clin Invest 1998; 101: 1084-1093.
41. Boren J, Ekstrom U, Agren B, Nilsson-Ehle P, Innerarity TL. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J Biol Chem 2001; 276: 9214-9218.
42. Shelness GS, Thornburg JT. Role of intramolecular disulfide bond formation in the assembly and secretion of apolipoprotein B-100-containing lipoproteins. J Lipid Res 1996; 37: 408-419.
43. Berglund L, Ramakrishnan R. Lipoprotein(a): an elusive cardiovascular risk factor. Arterioscler Thromb Vasc Biol 2004; 24:2219-2226.
44. Becker L, McLeod RS, Marcovina SM, Yao Z, Koschinsky ML. Identification of a critical lysine residue in apolipoprotein B-100 that mediates noncovalent interaction with apolipoprotein(a). J Biol Chem 2001; 276: 36155-36162.
45. McCormick SP, Ng JK, Cham CM, Taylor S, Marcovina SM, Segrest JP, Hammer RE, Young SG. Transgenic mice expressing human apoB95 and apoB97. Evidence that sequences within the carboxyl-terminal portion of human apoB100 are important for the assembly of lipoprotein. J Biol Chem 1997; 272: 23616-23622.
46. McCormick SP, Ng JK, Taylor S, Flynn LM, Hammer RE, Young SG. Mutagenesis of the human apolipoprotein B gene in a yeast artificial chromosome reveals the site of attachment for apolipoprotein(a). Proc Natl Acad Sci USA 1995; 92: 10147-10151.
47. Callow MJ, Rubin EM. Site-specific mutagenesis demonstrates that cysteine 4326 of apolipoprotein B is required for covalent linkage with apolipoprotein (a) in vivo. J Biol Chem 1995; 270: 23914-23917.
48. Boren J, Olin K, Lee I, Chait A, Wight TN, Innerarity TL. 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 1998; 101: 2658-2664.
49. Karpe F, Steiner G, Uffelman K, Olivecrona T, Hamsten A. Postprandial lipoproteins and progression of coronary atherosclerosis. Atherosclerosis 1994; 106:83-97.
50. Groot PH, van Stiphout WA, Krauss XH, Jansen H, van Tol A, van Ramshorst E, Chin-On S, Hofman A, Cresswell SR, Havekes L. Postprandial lipoprotein metabolism in normolipidemic men with and without coronary artery disease. Arterioscler Thromb 1991; 11: 653-652.
51. Flood C, Gustafsson M, Richardson PE, Harvey SC, Segrest JP, Boren J. Identification of the proteoglycan binding site in apolipoprotein B48. J Biol Chem 2002; 277: 32228-32233.
52. Choi SY, Sivaram P, Walker DE, Curtiss LK, Gretch DG, Sturley SL, Attie AD, Deckelbaum RJ, Goldberg IJ. Lipoprotein lipase association with lipoproteins involves protein-protein interaction with apolipoprotein B. J Biol Chem 1995; 270: 8081-8086.
53. Weisgraber KH, Rall SC, Jr. Human apolipoprotein B-100 heparin-binding sites. J Biol Chem 1987; 262: 11097-11103.
54. Chan L, Boerwinkle E. Structure, function, molecular genetics, and epidemiology of apolipoprotein B. Semin Liver Dis 1992; 12: 311-320.
55. Bakillah A, Jamil H, Hussain MM. Lysine and arginine residues in the N-terminal 18% of apolipoprotein B are critical for its binding to microsomal triglyceride transfer protein. Biochemistry 1998; 37: 3727-3734.
56. Hussain MM, Shi J, Dreizen P. Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly. J Lipid Res 2003; 44: 22-32.
57. Olofsson SO, Asp L, Boren J. The assembly and secretion of apolipoprotein B-containing lipoproteins. Curr Opin Lipidol 1999; 10: 341-346.
58. Shelness GS, Ingram MF, Huang XF, DeLozier JA. Apolipoprotein B in the rough endoplasmic reticulum: translation, translocation and the initiation of lipoprotein assembly. J Nutr 1999; 129: 456S-462S.
59. Chuck SL, Lingappa VR. Pause transfer: a topogenic sequence in apolipoprotein B mediates stopping and restarting of translocation. Cell 1992; 68: 9-21.
60. Kivlen MH, Dorsey CA, Lingappa VR, Hegde RS. Asymmetric distribution of pause transfer sequences in apolipoprotein B-100. J Lipid Res 1997; 38: 1149-1162.
61. Zhang J, Herscovitz H. Nascent lipidated apoB is transported to the Golgi as an incompletely folded intermediate as probed by its association with network of ER molecular chaperones, GRP94, ERp72, BiP, calreticulin and cyclophilin B. J Biol Chem 2002; 22: 22.
62. Pariyarath R, Wang H, Aitchison JD, Ginsberg HN, Welch WJ, Johnson AE, Fisher EA. Co-translational interactions of apoprotein B with the ribosome and translocon during lipoprotein assembly or targeting to the proteasome. J Biol Chem 2001; 276: 541-550.
63. Wetterau JR, Combs KA, Spinner SN, Joiner BJ. Protein disulfide isomerase is a component of the microsomal triglyceride transfer protein complex. J Biol Chem 1990; 265: 9801-9807.
64. Lamberg A, Jauhiainen M, Metso J, Ehnholm C, Shoulders C, Scott J, Pihlajaniemi T, Kivirikko KI. The role of protein disulphide isomerase in the microsomal triacylglycerol transfer protein does not reside in its isomerase activity. Biochem J 1996; 315:533-536.
65. Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ, et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 1993; 365: 65-69.
66. Hussain MM, Bakillah A, Jamil H. Apolipoprotein B binding to microsomal triglyceride transfer protein decreases with increases in length and lipidation: implications in lipoprotein biosynthesis. Biochemistry 1997; 36: 13060-13067.
67. Jamil H, Gordon DA, Eustice DC, Brooks CM, Dickson JK, Jr., Chen Y, Ricci B, Chu CH, Harrity TW, Ciosek CP, Jr., Biller SA, Gregg RE, Wetterau JR. An inhibitor of the microsomal triglyceride transfer protein inhibits apoB secretion from HepG2 cells. Proc Natl Acad Sci USA 1996; 93: 11991-11995.
68. Bakillah A, Nayak N, Saxena U, Medford RM, Hussain MM. Decreased secretion of apoB follows inhibition of apoB-MTP binding by a novel antagonist. Biochemistry 2000; 39: 4892-4899.
69. Liang J, Ginsberg HN. Microsomal triglyceride transfer protein binding and lipid transfer activities are independent of each other, but both are required for secretion of apolipoprotein B lipoproteins from liver cells. J Biol Chem 2001; 276: 28606-28612.
70. Atzel A, Wetterau JR. Mechanism of microsomal triglyceride transfer protein catalyzed lipid transport. Biochemistry 1993; 32: 10444-10450.
71. Atzel A, Wetterau JR. Identification of two classes of lipid molecule binding sites on the microsomal triglyceride transfer protein. Biochemistry 1994; 33: 15382-15388.
72. Jamil H, Chu CH, Dickson JK, Jr., Chen Y, Yan M, Biller SA, Gregg RE, Wetterau JR, Gordon DA. Evidence that microsomal triglyceride transfer protein is limiting in the production of apolipoprotein B-containing lipoproteins in hepatic cells. J Lipid Res 1998; 39: 1448-1454.
73. Dashti N, Gandhi M, Liu X, Lin X, Segrest JP. The N-terminal 1000 residues of apolipoprotein B associate with microsomal triglyceride transfer protein to create a lipid transfer pocket required for lipoprotein assembly. Biochemistry 2002; 41: 6978-6987.
74. Richardson PE, Manchekar M, Dashti N, Jones MK, Beigneux A, Young SG, Harvey SC, Segrest JP. Assembly of lipoprotein particles containing apolipoprotein-B: Structural model for the nascent lipoprotein particle. Biophys J 2005; 88: 2789-2800.
75. Yao Z, Tran K, McLeod RS. Intracellular degradation of newly synthesized apolipoprotein B. J Lipid Res 1997; 38: 1937-1953.
76. Fraser F, Corstorphine CG, Price NT, Zammit VA. Evidence that carnitine palmitoyltransferase I (CPT I) is expressed in microsomes and peroxisomes of rat liver. Distinct immunoreactivity of the N-terminal domain of the microsomal protein. FEBS Lett 1999; 446: 69-74.
77. Fraser F, Corstorphine CG, Zammit VA. Subcellular distribution of mitochondrial carnitine palmitoyltransferase I in rat liver. Evidence for a distinctive N-terminal structure of the microsomal but not the peroxisomal enzyme. Adv Exp Med Biol 1999; 466:17-25.
78. Liang JJ, Oelkers P, Guo C, Chu PC, Dixon JL, Ginsberg HN, Sturley SL. Overexpression of human diacylglycerol acyltransferase 1, acyl-coa:cholesterol acyltransferase 1, or acyl-CoA:cholesterol acyltransferase 2 stimulates secretion of apolipoprotein B-containing lipoproteins in McA-RH7777 cells. J Biol Chem 2004; 279: 44938-44944.
79. Waterman IJ, Zammit VA. Activities of overt and latent diacylglycerol acyltransferases (DGATs I and II) in liver microsomes of ob/ob mice. Int J Obes Relat Metab Disord 2002; 26: 742-743.
80. Joyce C, Skinner K, Anderson RA, Rudel LL. Acyl-coenzyme A:cholesteryl acyltransferase 2. Curr Opin Lipidol 1999; 10: 89-95.
81. Raabe M, Veniant MM, Sullivan MA, Zlot CH, Bjorkegren J, Nielsen LB, Wong JS, Hamilton RL, Young SG. Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice. J Clin Invest 1999; 103: 1287-1298.
82. Pan M, Liang Js JS, Fisher EA, Ginsberg HN. The late addition of core lipids to nascent apolipoprotein B100, resulting in the assembly and secretion of triglyceride-rich lipoproteins, is independent of both microsomal triglyceride transfer protein activity and new triglyceride synthesis. J Biol Chem 2002; 277:4413-4421.
83. Kulinski A, Rustaeus S, Vance JE. Microsomal triacylglycerol transfer protein is required for lumenal accretion of triacylglycerol not associated with apoB, as well as for apoB lipidation. J Biol Chem 2002; 277: 31516-31525.
84. Tran K, Thorne-Tjomsland G, DeLong CJ, Cui Z, Shan J, Burton L, Jamieson JC, Yao Z. Intracellular assembly of very low density lipoproteins containing apolipoprotein B100 in rat hepatoma McA-RH7777 cells. J Biol Chem 2002; 277: 31187-31200.
85. Rusinol A, Verkade H, Vance JE. Assembly of rat hepatic very low density lipoproteins in the endoplasmic reticulum. J Biol Chem 1993; 268: 3555-3562.
86. Yamaguchi J, Gamble MV, Conlon D, Liang JS, Ginsberg HN. The conversion of apoB100 low density lipoprotein/high density lipoprotein particles to apoB100 very low density lipoproteins in response to oleic acid occurs in the endoplasmic reticulum and not in the Golgi in McA RH7777 cells. J Biol Chem 2003; 278: 42643-42651.
87. Ginsberg HN. Synthesis and secretion of apolipoprotein B from cultured liver cells. Curr Opin Lipidol 1995; 6: 275-280.
88. Vilas GL, Berthiaume LG. A role for palmitoylation in the quality control, assembly and secretion of apolipoprotein B. Biochem J 2004; 377: 121-130.
89. Vukmirica J, Tran K, Liang X, Shan J, Yuan J, Miskie BA, Hegele RA, Resh MD, Yao Z. Assembly and secretion of very low density lipoproteins containing apolipoprotein B48 in transfected McA-RH7777 cells. Lack of evidence that palmitoylation of apolipoprotein B48 is required for lipoprotein secretion. J Biol Chem 2003; 278: 14153-14161.
90. Elovson J, Chatterton JE, Bell GT, Schumaker VN, Reuben MA, Puppione DL, Reeve JR, Jr., Young NL. Plasma very low density lipoproteins contain a single molecule of apolipoprotein B. J Lipid Res 1988; 29: 1461-1473.
91. Mensenkamp AR, Jong MC, van Goor H, van Luyn MJ, Bloks V, Havinga R, Voshol PJ, Hofker MH, van Dijk KW, Havekes LM, Kuipers F. Apolipoprotein E participates in the regulation of very low density lipoprotein-triglyceride secretion by the liver. J Biol Chem 1999; 274: 35711-35718.
92. Phillips ML, Pullinger C, Kroes I, Kroes J, Hardman DA, Chen G, Curtiss LK, Gutierrez MM, Kane JP, Schumaker VN. A single copy of apolipoprotein B-48 is present oil the human chylomicron remnant. J Lipid Res 1997; 38: 1170-1177.
93. van Greevenbroek MM, de Bruin TW. Chylomicron synthesis by intestinal cells in vitro and in vivo. Atherosclerosis 1998; 141: S9-S16.
94. Wilcox LJ, Barrett PHR, Huff MW. Differential regulation of apolipoprotein B secretion from HepG2 cells by two HMG-CoA reductase inhibitors, atorvastatin and simvastatin. J Lipid Res 1999; 40: 1078-1089.
95. Wilcox LJ, Barrett PHR, Newton RS, Huff MW. ApoB100 secretion from HepG2 cells is decreased by the ACAT inhibitor CI-1011: an effect associated with enhanced intracellular degradation of apoB. Arterioscler Thromb Vasc Biol 1999; 19:939-949.
96. Borchardt RA, Davis RA. Intrahepatic assembly of very low density lipoproteins. Rate of transport out of the endoplasmic reticulum determines rate of secretion. J Biol Chem 1987; 262:16394-16402.
97. Sato R, Imanaka T, Takatsuki A, Takano T. Degradation of newly synthesized apolipoprotein B-100 in a pre-Golgi compartment. J Biol Chem 1990; 265: 11880-11884.
98. Pontrelli L, Sidiropoulos KG, Adeli K. Translational control of apolipoprotein B mRNA: Regulation via cis elements in the 5′ and 3′ untranslated regions. Biochemistry 2004; 43: 6734-6744.
99. Fisher EA, Zhou M, Mitchell DM, Wu X, Omura S, Wang H, Goldberg AL, Ginsberg HN. The degradation of apolipoprotein B100 is mediated by the ubiquitin-proteasome pathway and involves heat shock protein 70. J Biol Chem 1997; 272: 20427-20434.
100. Gusarova V, Caplan AJ, Brodsky JL, Fisher EA. Apoprotein B degradation is promoted by the molecular chaperones hsp90 and hsp70. J Biol Chem 2001; 276: 24891-24900.
101. Yeung SJ, Chen SH, Chan L. Ubiquitin-proteasome pathway mediates intracellular degradation of apolipoprotein B. Biochemistry 1996; 35: 13843-13848.
102. Liang JS, Kim T, Fang S, Yamaguchi J, Weissman AM, Fisher EA, Ginsberg HN. Overexpression of the tumor autocrine motility factor receptor Gp78, a ubiquitin protein ligase, results in increased ubiquitinylation and decreased secretion of apolipoprotein B100 in HepG2 cells. J Biol Chem 2003; 278: 23984-23988.
103. Chen Y, Le Caherec F, Chuck SL. Calnexin and other factors that alter translocation affect the rapid binding of ubiquitin to apoB in the Sec61 complex. J Biol Chem 1998; 273: 11887-11894.
104. Adeli K, Macri J, Mohammadi A, Kito M, Urade R, Cavallo D. Apolipoprotein B is intracellularly associated with an ER-60 protease homologue in HepG2 cells. J Biol Chem 1997; 272: 22489-22494.
105. Cavallo D, Rudy D, Mohammadi A, Macri J, Adeli K. Studies on degradative mechanisms mediating post-translational fragmentation of apolipoprotein B and the generation of the 70-kDa fragment. J Biol Chem 1999; 274: 23135-23143.
106. Qiu W, Kohen-Avramoglu R, Rashid-Kolvear F, Au CS, Chong TM, Lewis GF, Trinh DK, Austin RC, Urade R, Adeli K. Overexpression of the endoplasmic reticulum 60 protein ER-60 downregulates apoB100 secretion by inducing its intracellular degradation via a nonproteasomal pathway: evidence for an ER-60-mediated and pCMB-sensitive intracellular degradative pathway. Biochemistry 2004; 43: 4819-4831.
107. Adeli K, Wettesten M, Asp L, Mohammadi A, Macri J, Olofsson SO. Intracellular assembly and degradation of apolipoprotein B-100-containing lipoproteins in digitonin-permeabilized HEP G2 cells. J Biol Chem 1997; 272: 5031-5039.
108. Gillian-Daniel DL, Bates PW, Tebon A, Attie AD. Endoplasmic reticulum localization of the low density lipoprotein receptor mediates presecretory degradation of apolipoprotein B. Proc Natl Acad Sci USA 2002; 99: 4337-4342.
109. Twisk J, Gillian-Daniel DL, Tebon A, Wang L, Barrett PHR, Attie AD. The role of the LDL receptor in apolipoprotein B secretion. J Clin Invest 2000; 105: 521-532.
110. Larsson SL, Skogsberg J, Bjokegren J, Shelness GS, Hou L, Ledford AS, Parks JS, Weinberg RB. The low density lipoprotein receptor prevents secretion of dense apoB100-containing lipoproteins from the liver. J Biol Chem 2004; 279: 831-836.
111. Fisher EA, Pan M, Chen X, Wu X, Wang H, Jamil H, Sparks JD, Williams KJ. The triple threat to nascent apolipoprotein B. Evidence for multiple, distinct degradative pathways. J Biol Chem 2001; 276: 27855-27863.
112. Wang H, Chen X, Fisher EA. N-3 fatty acids stimulate intracellular degradation of apoprotein B in rat hepatocytes. J Clin Invest 1993; 91: 1380-1439.
113. Pan M, Cederbaum AI, Zhang YL, Ginsberg HN, Williams KJ, Fisher EA. Lipid peroxidation and oxidant stress regulate hepatic apolipoprotein B degradation and VLDL production. J Clin Invest 2004; 113: 1277-1287.
114. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34-47.
115. Havel RJ, Kane JP. Structure and metabolism of plasma lipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. Pp 2705-2716. New York: McGraw-Hill, 2001.
116. Young SG. Recent progress in understanding apolipoprotein B. Circulation 1990; 82: 1574-1594.
117. Herz J, Hamann U, Rogne S, Myklebost O, Gausepohl H, Stanley KK. Surface location and high affinity for calcium of a 500-kd liver membrane protein closely related to the LDL-receptor suggest a physiological role as lipoprotein receptor. EMBO J 1988; 7:4119-4127.
118. Cooper AD. Hepatic uptake of chylomicron remnants. J Lipid Res 1997; 38: 2173-2192.
119. Sakai J, Hoshino A, Takahashi S, Miura Y, Ishii H, Suzuki H, Kawarabayasi Y, Yamamoto T. Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene. J Biol Chem 1994; 269: 2173-2182.
120. Takahashi S, Sakai J, Fujino T, Hattori H, Zenimaru Y, Suzuki J, Miyamori I, Yamamoto TT. The very low-density lipoprotein (VLDL) receptor: characterization and functions as a peripheral lipoprotein receptor. J Atheroscler Thromb 2004; 11: 200-208.
121. Kane JP, Havel RJ. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. Pp 2717-2752. New York: McGraw-Hill, 2001.
122. Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 2005; 37: 161-165.
123. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34: 154-156.
124. Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal LJ, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 2003; 34: 29-31.
125. Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, Wetterau JR. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. Annu Rev Nutr 2000; 20: 663-697.
126. Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M, Schmitz J, Gay G, Rader DJ, Gregg RE. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992; 258: 999-1001.
127. Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz A, Grantham TT, Leoni PR, Bhattacharya S, Pease RJ, Cullen PM, et al. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet 1993; 2:2109-2116.
128. Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. Arterioscler Thromb Vasc Biol 1999; 19: 1950-1955.
129. Ricci B, Sharp D, O'Rourke E, Kienzle B, Blinderman L, Gordon D, Smith-Monroy C, Robinson G, Gregg RE, Rader DJ, et al. A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. J Biol Chem 1995; 270: 14281-14285.
130. Rehberg EF, Samson-Bouma ME, Kienzle B, Blinderman L, Jamil H, Wetterau JR, Aggerbeck LP, Gordon DA. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. J Biol Chem 1996; 271:29945-29952.
131. Mann CJ, Anderson TA, Read J, Chester SA, Harrison GB, Kochl S, Ritchie PJ, Bradbury P, Hussain FS, Amey J, Vanloo B, Rosseneu M, Infante R, Hancock JM, Levitt DG, Banaszak LJ, Scott J, Shoulders CC. The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteins. J Mol Biol 1999; 285: 391-408.
132. Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, Shionoiri F, Iizuka Y, Tamura Y, Nagai R, Illingworth DR, Gotoda T, Yamada N. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. J Lipid Res 2000; 41: 1199-1204.
133. Di Leo E, Lancellotti S, Penacchioni JY, Cefalu AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 2005; 180:311-318.
134. Chowers I, Banin E, Merin S, Cooper M, Granot E. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye 2001; 15: 525-530.
135. Averna M, Marcovina SM, Noto D, Cole TG, Krul ES, Schonfeld G. Familial hypobetalipoproteinemia is not associated with low levels of lipoprotein(a). Arterioscler Thromb Vasc Biol 1995; 15: 2165-2175.
136. Hegele RA, Sutherland S, Robertson M, Wu L, Emi M, Hopkins PN, Williams RR, Lalouel JM. The effect of genetic determinants of low density lipoprotein levels on lipoprotein (a). Clin Invest Med 1991; 14: 146-152.
137. Schonfeld G. Familial hypobetalipoproteinemia: A review. J Lipid Res 2003; 44: 878-883.
138. Ogata H, Akagi K, Baba M, Nagamatsu A, Suzuki N, Nomiyama K, Fujishima M. Fatty liver in a case with heterozygous familial hypobetalipoproteinemia. Am J Gastroenterol 1997; 92: 339-342.
139. Glueck CJ, Gartside P, Fallat RW, Sielski J, Steiner PM. Longevity syndromes: familial hypobeta and familial hyperalpha lipoproteinemia. J Lab Clin Med 1976; 88:941-957.
140. Sankatsing RR, Fouchier SW, de Haan S, Hutten BA, de Groot E, Kastelein JJ, Stroes ES. Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol 2005; 25: 1977-1984.
141. Elias N, Patterson BW, Schonfeld G. Decreased production rates of VLDL triglycerides and apoB-100 in subjects heterozygous for familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol 1999; 19: 2714-2721.
142. Pulai JI, Averna M, Srivastava RA, Latour MA, Clouse RE, Ostlund RE, Schonfeld G. 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 1997; 46: 1095-1100.
143. Young SG, Bertics SJ, Curtiss LK, Witztum JL. Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia. J Clin Invest 1987; 79: 1831-1841.
144. Collins DR, Knott TJ, Pease RJ, Powell LM, Wallis SC, Robertson S, Pullinger CR, Milne RW, Marcel YL, Humphries SE, et al. Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia. Nucleic Acids Res 1988; 16: 8361-8375.
145. Lancellotti S, Di Leo E, Penacchioni JY, Balli F, Viola L, Bertolini S, Calandra S, Tarugi P, Larsson SL, Skogsberg J, Bjokegren J, Shelness GS, Hou L, Ledford AS, Parks JS, Weinberg RB. Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B. Biochim Biophys Acta 2004; 1688: 61-67.
146. Yue P, Isley WL, Harris WS, Rosipal S, Akin CD, Schonfeld G. Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL. Atherosclerosis 2005; 178: 107-113.
147. Welty FK, Lahoz C, Tucker KL, Ordovas JM, Wilson PW, Schaefer EJ. Frequency of apoB and apoE gene mutations as causes of hypobetalipoproteinemia in the Framingham offspring population. Arterioscler Thromb Vasc Biol 1998; 18: 1745-1751.
148. Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem 2003; 278: 13442-13452.
149. Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, Saccone NL, Wu JS, Liu KY, Schonfeld G. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am J Hum Genet 2000; 66: 1699-1704.
150. Neuman RJ, Yuan B, Gerhard DS, Liu KY, Yue P, Duan S, Averna M, Schonfeld G. Replication of linkage of familial hypobetalipoproteinemia to schromosome 3p in six kindreds. J Lipid Res 2002; 43: 407-415.
151. Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW, et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoprotememia. Am J Hum Genet 1995; 57: 1298-1310.
152. Byers PH. Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest 2002; 109: 3-6.
153. Burnett JR, Barrett PHR. Apolipoprotein B metabolism: tracer kinetics, models, and metabolic studies. Crit Rev Clin Lab Sci 2002; 39: 89-137.
154. Parhofer KG, Barrett PHR, Aguilar-Salinas CA, Schonfeld G. Positive linear correlation between the length of truncated apolipoprotein B and its secretion rate: in vivo studies in human apoB-89, apoB-75, apoB-54.8, and apoB-31 heterozygotes. J Lipid Res 1996; 37: 844-852.
155. Parhofer KG, Barrett PHR, Bier DM, Schonfeld G. Lipoproteins containing the truncated apolipoprotein, Apo B-89, are cleared from human plasma more rapidly than Apo B-100-containing lipoproteins in vivo. J Clin Invest 1992; 89: 1931-1937.
156. Krul ES, Parhofer KG, Barrett PHR, Wagner RD, Schonfeld G. ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies. J Lipid Res 1992; 33: 1037-1050.
157. Yao Z, McLeod RS. Synthesis and secretion of hepatic apolipoprotein B-containing lipoproteins. Biochim Biophys Acta 1994; 1212: 152-166.
158. Yao ZM, Blackhart BD, Linton MF, Taylor SM, Young SG, McCarthy BJ. Expression of carboxyl-terminally truncated forms of human apolipoprotein B in rat hepatoma cells. Evidence that the length of apolipoprotein B has a major effect on the buoyant density of the secreted lipoproteins. J Biol Chem 1991; 266: 3300-3308.
159. Chen Z, Saffitz JE, Latour MA, Schonfeld G. Truncated apo B-70.5-containing lipoproteins bind to megalin but not the LDL receptor. J Clin Invest 1999; 103:1419-1430.
160. Wang S, McLeod RS, Gordon DA, Yao Z. The microsomal triglyceride transfer protein facilitates assembly and secretion of apolipoprotein B-containing lipoproteins and decreases cotranslational degradation of apolipoprotein B in transfected COS-7 cells. J Biol Chem 1996; 271: 14124-14133.
161. Shelness GS, Hou L, Ledford AS, Parks JS, Weinberg RB. Identification of the lipoprotein initiating domain of apolipoprotein B. J Biol Chem 2003; 278: 44702-44707.
162. Lapierre LR, Currie DL, Yao Z, Wang J, McLeod RS. Amino acid sequences within the beta1 domain of human apolipoprotein B can mediate rapid intracellular degradation. J Lipid Res 2004; 45: 366-377.
163. Linton MF, Farese RV, Young SG. Familial hypobetalipoproteinemia. J Lipid Res 1993; 34: 521-541.
164. Schonfeld G, Patterson BW, Yablonskiy DA, Tanoli TS, Averna M, Elias N, Yue P, Ackerman J. Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. J Lipid Res 2003; 44: 470-478.
165. Tanoli T, Yue P, Yablonskiy D, Schonfeld G. Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. J Lipid Res 2004; 45: 941-947.
166. Tarugi P, Lonardo A, Ballarini G, Grisendi A, Pulvirenti M, Bagni A, Calandra S. Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B. Gastroenterology 1996; 111: 1125-1133.
167. Whitfield AJ, Barrett PHR, Robertson K, Havlat MF, van Bockxmeer FM, Burnett JR. Liver dysfunction and steatosis in familial hypobetalipoproteinemia. Clin Chem 2005; 51: 266-269.
168. Chen Z, Fitzgerald RL, Averna MR, Schonfeld G. 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 2000; 275: 32807-32815.
169. Yue P, Tanoli T, Wilhelm O, Patterson B, Yablonskiy D, Schonfeld G. Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21. Metabolism 2005; 54: 682-688.
170. Homanics GE, Smith TJ, Zhang SH, Lee D, Young SG, Maeda N. Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice. Proc Natl Acad Sci USA 1993; 90: 2389-2393.
171. Kim E, Cham CM, Veniant MM, Ambroziak P, Young SG. Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene. J Clin Invest 1998; 101: 1468-1477.
172. Farese RV, Jr., Ruland SL, Flynn LM, Stokowski RP, Young SG. Knockout of the mouse apolipoprotein B gene results in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in heterozygotes. Proc Natl Acad Sci USA 1995; 92: 1774-1778.
173. Chen Z, Fitzgerald RL, Schonfeld G. Hypobetalipoprotememic mice with a targeted apolipoprotein (apo) B-27.6-specifying mutation: in vivo evidence for an important role of amino acids 1254-1744 of apoB in lipid transport and metabolism of the apoB-containing lipoprotein. J Biol Chem 2002; 277: 14135-14145.
174. Chen Z, Fitzgerald RL, Li G, Davidson NO, Schonfeld G, Saffitz JE, Semenkovich CF, Averna MR. Hepatic secretion of apoB-100 is impaired in hypobetalipoproteinemic mice with an apoB-38.9-specifying allele. J Lipid Res 2004; 45: 155-163.
175. Chen Z, Fitzgerald RL, Saffitz JE, Semenkovich CF, Schonfeld G, Averna MR. Amino terminal 38.9% of apolipoprotein B-100 is sufficient to support cholesterol-rich lipoprotein production and atherosclerosis. Arterioscler Thromb Vasc Biol 2003; 23:668-674.
176. Lin X, Schonfeld G, Yue P, Chen Z. Hepatic fatty acid synthesis is suppressed in mice with fatty livers due to targeted apolipoprotein B38.9 mutation. Arterioscler Thromb Vasc Biol 2002; 22: 476-482.
177. Lin X, Yue P, Xie Y, Davidson NO, Sakata N, Ostlund RE, Jr., Chen Z, Schonfeld G. Reduced intestinal fat absorptive capacity but enhanced susceptibility to diet-induced fatty liver in mice heterozygous for ApoB38.9 truncation. Am J Physiol Gastrointest Liver Physiol 2005; 289: G146-G152.
178. Welty FK, Guida KA, Andersen JJ. Donor splice-site mutation (210+1G_C) in the apoB gene causes a very low level of apoB-100 and LDL cholesterol. Arterioscler Thromb Vasc Biol 2001; 21: 1864-1865.
179. Whitfield AJ, Marais AD, Robertson K, Barrett PHR, Bockxmeer FM, Burnett JR. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. Hum Mutat 2003; 22: 178.
180. Huang LS, Kayden H, Sokol RJ, Breslow JL. ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J Lipid Res 1991; 32: 1341-1348.
181. Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, Averna M, Schonfeld G. Known mutations of apoB account for only a small minority of hypobetalipoproteinemia. J Lipid Res 1999; 40: 955-959.
182. Hegele RA, Miskie BA. Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. Clin Genet 2002; 61: 101-103.
183. Tarugi P, Lonardo A, Gabelli C, Sala F, Ballarini G, Cortella I, Previato L, Bertolini S, Cordera R, Calandra S. Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. J Lipid Res 2001; 42:1552-1561.
184. Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G. Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. Hum Mutat 2002; 20: 110-116.
185. Fouchier SW, Sankatsing RR, Peter J, Castillo S, Pocovi M, Alonso R, Kastelein JJ, Defesche JC. High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent. J Med Genet 2005; 42: e23.
186. Huang LS, Ripps ME, Korman SH, Deckelbaum RJ, Breslow JL. Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. J Biol Chem 1989; 264: 11394-11400.
187. Lancellotti S, Zaffanello M, Leo ED, Costa L, Lonardo A, Tarugi P. Pediatric gallstone disease in familial hypobetalipoproteinemia. J Hepatol 2005; 43: 188-191.
188. Talmud PJ, Krul ES, Pessah M, Gay G, Schonfeld G, Humphries SE, Infante R. Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia. J Lipid Res 1994; 35: 468-477.
189. Young SG, Hubl ST, Smith RS, Snyder SM, Terdiman JF. Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins. J Clin Invest 1990; 85: 933-942.
190. McCormick SP, Fellowes AP, Walmsley TA, George PM. Apolipoprotein B-32: a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range. Biochim Biaphys Acta 1992; 1138: 290-296.
191. Young SG, Pullinger CR, Zysow BR, Hofmann-Radvani H, Linton MF, Farese RV, Jr., Terdiman JF, Snyder SM, Grundy SM, Vega GL, et al. Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length. J Lipid Res 1993; 34: 501-507.
192. Ohashi K, Ishibashi S, Yamamoto M, Osuga J, Yazaki Y, Yukawa S, Yamada N. A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus. Arterioscler Thromb Vasc Biol 1998; 18: 1330-1334.
193. Groenewegen WA, Averna MR, Pulai J, Krul ES, Schonfeld G. Apolipoprotein B-38.9 does not associate with apo [a] and forms two distinct HDL density particle populations that are larger than HDL. J Lipid Res 1994; 35: 1012-1025.
194. Krul ES, Kinoshita M, Talmud P, Humphries SE, Turner S, Goldberg AC, Cook K, Boerwinkle E, Schonfeld G. Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. Arteriosclerosis 1989; 9: 856-568.
195. Talmud P, King-Underwood L, Krul E, Schonfeld G, Humphries S. The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia. J Lipid Res 1989; 30: 1773-1779.
196. Srivastava N, Noto D, Averna M, Pulai J, Srivastava RA, Cole TG, Latour MA, Patterson BW, Schonfeld G. A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteine-mia: genetic and metabolic studies. Metabolism 1996; 45:1296-1304.
197. Welty FK, Ordovas J, Schaefer EJ, Wilson PW, Young SG. Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels. Circulation 1995; 92:2036-2040.
198. Young SG, Bihain B, Flynn LM, Sanan DA, Ayrault-Jarrier M, Jacotot B. Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2. Hum Mol Genet 1994; 3: 741-744.
199. Young SG, Hubl ST, Chappell DA, Smith RS, Claiborne F, Snyder SM, Terdiman JF. Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46). N Engl J Med 1989; 320: 1604-1610.
200. Ruotolo G, Zanelli T, Tettamanti C, Ragogna F, Parlavecchia M, Vigano F, Catapano AL. Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48. Atherosclerosis 1998; 137: 125-131.
201. Hardman DA, Pullinger CR, Hamilton RL, Kane JP, Malloy MJ. Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. J Clin Invest 1991; 88: 1722-1729.
202. Groenewegen WA, Krul ES, Schonfeld G. Apolipoprotein B-52 mutation associated with hypobetalipoproteinemia is compatible with a misaligned pairing deletion mechanism. J Lipid Res 1993; 34: 971-981.
203. Tarugi P, Lonardo A, Ballarini G, Erspamer L, Tondelli E, Bertolini S, Calandra S. A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5). J Hepatol 2000; 33: 361-370.
204. Wagner RD, Krul ES, Tang J, Parhofer KG, Garlock K, Talmud P, Schonfeld G. ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia. J Lipid Res 1991; 32: 1001-1011.
205. Talmud PJ, Converse C, Krul E, Huq L, McIlwaine GG, Series JJ, Boyd P, Schonfeld G, Dunning A, Humphries S. A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. Clin Genet 1992; 42: 62-70.
206. Pulai JI, Latour MA, Kwok PY, Schonfeld G. Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). Atherosclerosis 1998; 136: 289-295.
207. Pullinger CR, Hillas E, Hardman DA, Chen GC, Naya-Vigne JM, Iwasa JA, Hamilton RL, Lalouel JM, Williams RR, Kane JP. Two apolipoprotein B gene defects in a kindred with hypobetalipoproteinemia, one of which results in a truncated variant, apoB-61, in VLDL and LDL. J Lipid Res 1992; 33: 699-710.
208. Welty FK, Hubl ST, Pierotti VR, Young SG. A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia. J Clin Invest 1991; 87: 1748-1754.
209. Groenewegen WA, Krul ES, Averna MR, Pulai J, Schonfeld G. Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for apoB (apoB-70.5) and apoE (apoE2). Arterioscler Thromb 1994; 14: 1695-1704.
210. Farese RV, Jr., Garg A, Pierotti VR, Vega GL, Young SG. A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia. J Lipid Res 1992; 33: 569-577.
211. Linton MF, Pierotti V, Young SG. Reading-frame restoration with an apolipoprotein B gene frameshift mutation. Proc Natl Acad Sci USA 1992; 89:11431-11435.
212. Gabelli C, Bilato C, Martini S, Tennyson GE, Zech LA, Corsini A, Albanese M, Brewer HB, Jr., Crepaldi G, Baggio G. Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova. Arterioscler Thromb Vasc Biol 1996; 16: 1189-1196.