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. 1989 Aug;84(2):373–380. doi: 10.1172/JCI114176

Genetic basis of lipoprotein disorders.

J L Breslow 1
PMCID: PMC548893  PMID: 2668331

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aalto-Setälä K. The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA. FEBS Lett. 1988 Jul 18;234(2):411–416. doi: 10.1016/0014-5793(88)80127-3. [DOI] [PubMed] [Google Scholar]
  2. Armstrong V. W., Walli A. K., Seidel D. Isolation, characterization, and uptake in human fibroblasts of an apo(a)-free lipoprotein obtained on reduction of lipoprotein(a). J Lipid Res. 1985 Nov;26(11):1314–1323. [PubMed] [Google Scholar]
  3. Assmann G., Schmitz G., Menzel H. J., Schulte H. Apolipoprotein E polymorphism and hyperlipidemia. Clin Chem. 1984 May;30(5):641–643. [PubMed] [Google Scholar]
  4. Blackhart B. D., Ludwig E. M., Pierotti V. R., Caiati L., Onasch M. A., Wallis S. C., Powell L., Pease R., Knott T. J., Chu M. L. Structure of the human apolipoprotein B gene. J Biol Chem. 1986 Nov 25;261(33):15364–15367. [PubMed] [Google Scholar]
  5. Blum C. B. Dynamics of apolipoprotein E metabolism in humans. J Lipid Res. 1982 Dec;23(9):1308–1316. [PubMed] [Google Scholar]
  6. Bouthillier D., Sing C. F., Davignon J. Apolipoprotein E phenotyping with a single gel method: application to the study of informative matings. J Lipid Res. 1983 Aug;24(8):1060–1069. [PubMed] [Google Scholar]
  7. Breckenridge W. C. Deficiencies of plasma lipolytic activities. Am Heart J. 1987 Feb;113(2 Pt 2):567–573. doi: 10.1016/0002-8703(87)90634-x. [DOI] [PubMed] [Google Scholar]
  8. Breckenridge W. C., Little J. A., Alaupovic P., Wang C. S., Kuksis A., Kakis G., Lindgren F., Gardiner G. Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis. 1982 Nov;45(2):161–179. doi: 10.1016/0021-9150(82)90136-8. [DOI] [PubMed] [Google Scholar]
  9. Breslow J. L. Apolipoprotein genetic variation and human disease. Physiol Rev. 1988 Jan;68(1):85–132. doi: 10.1152/physrev.1988.68.1.85. [DOI] [PubMed] [Google Scholar]
  10. Breslow J. L. Human apolipoprotein molecular biology and genetic variation. Annu Rev Biochem. 1985;54:699–727. doi: 10.1146/annurev.bi.54.070185.003411. [DOI] [PubMed] [Google Scholar]
  11. Breslow J. L., Zannis V. I., SanGiacomo T. R., Third J. L., Tracy T., Glueck C. J. Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2. J Lipid Res. 1982 Nov;23(8):1224–1235. [PubMed] [Google Scholar]
  12. Carlson L. A., Holmquist L., Nilsson-Ehle P. Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia. Acta Med Scand. 1986;219(5):435–447. doi: 10.1111/j.0954-6820.1986.tb03337.x. [DOI] [PubMed] [Google Scholar]
  13. Cladaras C., Hadzopoulou-Cladaras M., Felber B. K., Pavlakis G., Zannis V. I. The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene. J Biol Chem. 1987 Feb 15;262(5):2310–2315. [PubMed] [Google Scholar]
  14. Collins D. R., Knott T. J., Pease R. J., Powell L. M., Wallis S. C., Robertson S., Pullinger C. R., Milne R. W., Marcel Y. L., Humphries S. E. Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia. Nucleic Acids Res. 1988 Sep 12;16(17):8361–8375. doi: 10.1093/nar/16.17.8361. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Cortner J. A., Coates P. M., Le N. A., Cryer D. R., Ragni M. C., Faulkner A., Langer T. Kinetics of chylomicron remnant clearance in normal and in hyperlipoproteinemic subjects. J Lipid Res. 1987 Feb;28(2):195–206. [PubMed] [Google Scholar]
  16. Cottrill C., Glueck C. J., Leuba V., Millett F., Puppione D., Brown W. V. Familial homozygous hypobetalipoproteinemia. Metabolism. 1974 Aug;23(8):779–791. doi: 10.1016/0026-0495(74)90010-9. [DOI] [PubMed] [Google Scholar]
  17. Cox D. W., Wills D. E., Quan F., Ray P. N. A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto). J Med Genet. 1988 Oct;25(10):649–652. doi: 10.1136/jmg.25.10.649. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Dahlen G. H., Guyton J. R., Attar M., Farmer J. A., Kautz J. A., Gotto A. M., Jr Association of levels of lipoprotein Lp(a), plasma lipids, and other lipoproteins with coronary artery disease documented by angiography. Circulation. 1986 Oct;74(4):758–765. doi: 10.1161/01.cir.74.4.758. [DOI] [PubMed] [Google Scholar]
  19. Davignon J., Gregg R. E., Sing C. F. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis. 1988 Jan-Feb;8(1):1–21. doi: 10.1161/01.atv.8.1.1. [DOI] [PubMed] [Google Scholar]
  20. Davis C. G., Lehrman M. A., Russell D. W., Anderson R. G., Brown M. S., Goldstein J. L. The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell. 1986 Apr 11;45(1):15–24. doi: 10.1016/0092-8674(86)90533-7. [DOI] [PubMed] [Google Scholar]
  21. Drayna D. T., Hegele R. A., Hass P. E., Emi M., Wu L. L., Eaton D. L., Lawn R. M., Williams R. R., White R. L., Lalouel J. M. Genetic linkage between lipoprotein(a) phenotype and a DNA polymorphism in the plasminogen gene. Genomics. 1988 Oct;3(3):230–236. doi: 10.1016/0888-7543(88)90084-5. [DOI] [PubMed] [Google Scholar]
  22. Drayna D., Fielding C., McLean J., Baer B., Castro G., Chen E., Comstock L., Henzel W., Kohr W., Rhee L. Cloning and expression of human apolipoprotein D cDNA. J Biol Chem. 1986 Dec 15;261(35):16535–16539. [PubMed] [Google Scholar]
  23. Eisenberg S. High density lipoprotein metabolism. J Lipid Res. 1984 Oct;25(10):1017–1058. [PubMed] [Google Scholar]
  24. Fojo S. S., Beisiegel U., Beil U., Higuchi K., Bojanovski M., Gregg R. E., Greten H., Brewer H. B., Jr Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency. J Clin Invest. 1988 Nov;82(5):1489–1494. doi: 10.1172/JCI113756. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Fojo S. S., Stalenhoef A. F., Marr K., Gregg R. E., Ross R. S., Brewer H. B., Jr A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II. J Biol Chem. 1988 Dec 5;263(34):17913–17916. [PubMed] [Google Scholar]
  26. Franceschini G., Sirtori C. R., Bosisio E., Gualandri V., Orsini G. B., Mogavero A. M., Capurso A. Relationship of the phenotypic expression of the A-IMilano apoprotein with plasma lipid and lipoprotein patterns. Atherosclerosis. 1985 Dec;58(1-3):159–174. doi: 10.1016/0021-9150(85)90063-2. [DOI] [PubMed] [Google Scholar]
  27. Franceschini G., Sirtori C. R., Capurso A., 2nd, Weisgraber K. H., Mahley R. W. A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family. J Clin Invest. 1980 Nov;66(5):892–900. doi: 10.1172/JCI109956. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Franceschini G., Sirtori M., Gianfranceschi G., Sirtori C. R. Relation between the HDL apoproteins and AI isoproteins in subjects with the AIMilano abnormality. Metabolism. 1981 May;30(5):502–509. doi: 10.1016/0026-0495(81)90188-8. [DOI] [PubMed] [Google Scholar]
  29. Frank S. L., Klisak I., Sparkes R. S., Mohandas T., Tomlinson J. E., McLean J. W., Lawn R. M., Lusis A. J. The apolipoprotein(a) gene resides on human chromosome 6q26-27, in close proximity to the homologous gene for plasminogen. Hum Genet. 1988 Aug;79(4):352–356. doi: 10.1007/BF00282175. [DOI] [PubMed] [Google Scholar]
  30. Gaubatz J. W., Heideman C., Gotto A. M., Jr, Morrisett J. D., Dahlen G. H. Human plasma lipoprotein [a]. Structural properties. J Biol Chem. 1983 Apr 10;258(7):4582–4589. [PubMed] [Google Scholar]
  31. Gavish D., Brinton E. A., Breslow J. L. Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma. Science. 1989 Apr 7;244(4900):72–76. doi: 10.1126/science.2565046. [DOI] [PubMed] [Google Scholar]
  32. Ghiselli G., Schaefer E. J., Gascon P., Breser H. B., Jr Type III hyperlipoproteinemia associated with apolipoprotein E deficiency. Science. 1981 Dec 11;214(4526):1239–1241. doi: 10.1126/science.6795720. [DOI] [PubMed] [Google Scholar]
  33. Gregg R. E., Zech L. A., Schaefer E. J., Stark D., Wilson D., Brewer H. B., Jr Abnormal in vivo metabolism of apolipoprotein E4 in humans. J Clin Invest. 1986 Sep;78(3):815–821. doi: 10.1172/JCI112645. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Gualandri V., Franceschini G., Sirtori C. R., Gianfranceschi G., Orsini G. B., Cerrone A., Menotti A. AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission. Am J Hum Genet. 1985 Nov;37(6):1083–1097. [PMC free article] [PubMed] [Google Scholar]
  35. Gualandri V., Orsini G. B., Cerrone A., Franceschini G., Sirtori C. R. Familial associations of lipids and lipoproteins in a highly consanguineous population: the Limone sul Garda study. Metabolism. 1985 Mar;34(3):212–221. doi: 10.1016/0026-0495(85)90003-4. [DOI] [PubMed] [Google Scholar]
  36. Hegele R. A., Breslow J. L. Apolipoprotein genetic variation in the assessment of atherosclerosis susceptibility. Genet Epidemiol. 1987;4(3):163–184. doi: 10.1002/gepi.1370040302. [DOI] [PubMed] [Google Scholar]
  37. Hobbs H. H., Brown M. S., Russell D. W., Davignon J., Goldstein J. L. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med. 1987 Sep 17;317(12):734–737. doi: 10.1056/NEJM198709173171204. [DOI] [PubMed] [Google Scholar]
  38. Hobbs H. H., Leitersdorf E., Goldstein J. L., Brown M. S., Russell D. W. Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest. 1988 Mar;81(3):909–917. doi: 10.1172/JCI113402. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Horsthemke B., Dunning A., Humphries S. Identification of deletions in the human low density lipoprotein receptor gene. J Med Genet. 1987 Mar;24(3):144–147. doi: 10.1136/jmg.24.3.144. [DOI] [PMC free article] [PubMed] [Google Scholar]
  40. Humphries S. E. DNA polymorphisms of the apolipoprotein genes--their use in the investigation of the genetic component of hyperlipidaemia and atherosclerosis. Atherosclerosis. 1988 Aug;72(2-3):89–108. doi: 10.1016/0021-9150(88)90069-x. [DOI] [PubMed] [Google Scholar]
  41. Innerarity T. L., Friedlander E. J., Rall S. C., Jr, Weisgraber K. H., Mahley R. W. The receptor-binding domain of human apolipoprotein E. Binding of apolipoprotein E fragments. J Biol Chem. 1983 Oct 25;258(20):12341–12347. [PubMed] [Google Scholar]
  42. Innerarity T. L., Weisgraber K. H., Arnold K. S., Mahley R. W., Krauss R. M., Vega G. L., Grundy S. M. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A. 1987 Oct;84(19):6919–6923. doi: 10.1073/pnas.84.19.6919. [DOI] [PMC free article] [PubMed] [Google Scholar]
  43. Kajinami K., Mabuchi H., Itoh H., Michishita I., Takeda M., Wakasugi T., Koizumi J., Takeda R. New variant of low density lipoprotein receptor gene. FH-Tonami. Arteriosclerosis. 1988 Mar-Apr;8(2):187–192. doi: 10.1161/01.atv.8.2.187. [DOI] [PubMed] [Google Scholar]
  44. Karathanasis S. K., Ferris E., Haddad I. A. DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. Proc Natl Acad Sci U S A. 1987 Oct;84(20):7198–7202. doi: 10.1073/pnas.84.20.7198. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Karathanasis S. K., Norum R. A., Zannis V. I., Breslow J. L. An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis. Nature. 1983 Feb 24;301(5902):718–720. doi: 10.1038/301718a0. [DOI] [PubMed] [Google Scholar]
  46. Karathanasis S. K., Zannis V. I., Breslow J. L. A DNA insertion in the apolipoprotein A-I gene of patients with premature atherosclerosis. 1983 Oct 27-Nov 2Nature. 305(5937):823–825. doi: 10.1038/305823a0. [DOI] [PubMed] [Google Scholar]
  47. Kirchgessner T. G., Svenson K. L., Lusis A. J., Schotz M. C. The sequence of cDNA encoding lipoprotein lipase. A member of a lipase gene family. J Biol Chem. 1987 Jun 25;262(18):8463–8466. [PubMed] [Google Scholar]
  48. Koizumi J., Mabuchi H., Yoshimura A., Michishita I., Takeda M., Itoh H., Sakai Y., Sakai T., Ueda K., Takeda R. Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemia. Atherosclerosis. 1985 Dec;58(1-3):175–186. doi: 10.1016/0021-9150(85)90064-4. [DOI] [PubMed] [Google Scholar]
  49. Kurasawa T., Yokoyama S., Miyake Y., Yamamura T., Yamamoto A. Rate of cholesteryl ester transfer between high and low density lipoproteins in human serum and a case with decreased transfer rate in association with hyperalphalipoproteinemia. J Biochem. 1985 Dec;98(6):1499–1508. doi: 10.1093/oxfordjournals.jbchem.a135418. [DOI] [PubMed] [Google Scholar]
  50. Lalazar A., Weisgraber K. H., Rall S. C., Jr, Giladi H., Innerarity T. L., Levanon A. Z., Boyles J. K., Amit B., Gorecki M., Mahley R. W. Site-specific mutagenesis of human apolipoprotein E. Receptor binding activity of variants with single amino acid substitutions. J Biol Chem. 1988 Mar 15;263(8):3542–3545. [PubMed] [Google Scholar]
  51. Langlois S., Deeb S., Brunzell J. D., Kastelein J. J., Hayden M. R. A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A. 1989 Feb;86(3):948–952. doi: 10.1073/pnas.86.3.948. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Langlois S., Kastelein J. J., Hayden M. R. Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). Am J Hum Genet. 1988 Jul;43(1):60–68. [PMC free article] [PubMed] [Google Scholar]
  53. Lenzen H. J., Assmann G., Buchwalsky R., Schulte H. Association of apolipoprotein E polymorphism, low-density lipoprotein cholesterol, and coronary artery disease. Clin Chem. 1986 May;32(5):778–781. [PubMed] [Google Scholar]
  54. Leppert M., Breslow J. L., Wu L., Hasstedt S., O'Connell P., Lathrop M., Williams R. R., White R., Lalouel J. M. Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred. J Clin Invest. 1988 Sep;82(3):847–851. doi: 10.1172/JCI113688. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. Li W. H., Tanimura M., Luo C. C., Datta S., Chan L. The apolipoprotein multigene family: biosynthesis, structure, structure-function relationships, and evolution. J Lipid Res. 1988 Mar;29(3):245–271. [PubMed] [Google Scholar]
  56. Lusis A. J. Genetic factors affecting blood lipoproteins: the candidate gene approach. J Lipid Res. 1988 Apr;29(4):397–429. [PubMed] [Google Scholar]
  57. Mahley R. W., Angelin B. Type III hyperlipoproteinemia: recent insights into the genetic defect of familial dysbetalipoproteinemia. Adv Intern Med. 1984;29:385–411. [PubMed] [Google Scholar]
  58. McLean J. W., Tomlinson J. E., Kuang W. J., Eaton D. L., Chen E. Y., Fless G. M., Scanu A. M., Lawn R. M. cDNA sequence of human apolipoprotein(a) is homologous to plasminogen. Nature. 1987 Nov 12;330(6144):132–137. doi: 10.1038/330132a0. [DOI] [PubMed] [Google Scholar]
  59. Menzel H. J., Kladetzky R. G., Assmann G. Apolipoprotein E polymorphism and coronary artery disease. Arteriosclerosis. 1983 Jul-Aug;3(4):310–315. doi: 10.1161/01.atv.3.4.310. [DOI] [PubMed] [Google Scholar]
  60. Miller N. E. Associations of high-density lipoprotein subclasses and apolipoproteins with ischemic heart disease and coronary atherosclerosis. Am Heart J. 1987 Feb;113(2 Pt 2):589–597. doi: 10.1016/0002-8703(87)90638-7. [DOI] [PubMed] [Google Scholar]
  61. Morton N. E., Berg K., Dahlen G., Ferrell R. E., Rhoads G. G. Genetics of the Lp lipoprotein in Japanese-Americans. Genet Epidemiol. 1985;2(2):113–121. doi: 10.1002/gepi.1370020202. [DOI] [PubMed] [Google Scholar]
  62. Norum R. A., Lakier J. B., Goldstein S., Angel A., Goldberg R. B., Block W. D., Noffze D. K., Dolphin P. J., Edelglass J., Bogorad D. D. Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease. N Engl J Med. 1982 Jun 24;306(25):1513–1519. doi: 10.1056/NEJM198206243062503. [DOI] [PubMed] [Google Scholar]
  63. Rall S. C., Jr, Weisgraber K. H., Innerarity T. L., Bersot T. P., Mahley R. W., Blum C. B. Identification of a new structural variant of human apolipoprotein E, E2(Lys146 leads to Gln), in a type III hyperlipoproteinemic subject with the E3/2 phenotype. J Clin Invest. 1983 Oct;72(4):1288–1297. doi: 10.1172/JCI111085. [DOI] [PMC free article] [PubMed] [Google Scholar]
  64. Rall S. C., Jr, Weisgraber K. H., Innerarity T. L., Mahley R. W. Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects. Proc Natl Acad Sci U S A. 1982 Aug;79(15):4696–4700. doi: 10.1073/pnas.79.15.4696. [DOI] [PMC free article] [PubMed] [Google Scholar]
  65. Rall S. C., Jr, Weisgraber K. H., Mahley R. W. Human apolipoprotein E. The complete amino acid sequence. J Biol Chem. 1982 Apr 25;257(8):4171–4178. [PubMed] [Google Scholar]
  66. Rhoads G. G., Dahlen G., Berg K., Morton N. E., Dannenberg A. L. Lp(a) lipoprotein as a risk factor for myocardial infarction. JAMA. 1986 Nov 14;256(18):2540–2544. [PubMed] [Google Scholar]
  67. Schaefer E. J., Blum C. B., Levy R. I., Jenkins L. L., Alaupovic P., Foster D. M., Brewer H. B., Jr Metabolism of high-density lipoprotein apolipoproteins in Tangier disease. N Engl J Med. 1978 Oct 26;299(17):905–910. doi: 10.1056/NEJM197810262991701. [DOI] [PubMed] [Google Scholar]
  68. Schaefer E. J., Heaton W. H., Wetzel M. G., Brewer H. B., Jr Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis. 1982 Jan-Feb;2(1):16–26. doi: 10.1161/01.atv.2.1.16. [DOI] [PubMed] [Google Scholar]
  69. Schmitz G., Assmann G., Robenek H., Brennhausen B. Tangier disease: a disorder of intracellular membrane traffic. Proc Natl Acad Sci U S A. 1985 Sep;82(18):6305–6309. doi: 10.1073/pnas.82.18.6305. [DOI] [PMC free article] [PubMed] [Google Scholar]
  70. Schneider W. J., Kovanen P. T., Brown M. S., Goldstein J. L., Utermann G., Weber W., Havel R. J., Kotite L., Kane J. P., Innerarity T. L. Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenal of rats, rabbits, and cows. J Clin Invest. 1981 Oct;68(4):1075–1085. doi: 10.1172/JCI110330. [DOI] [PMC free article] [PubMed] [Google Scholar]
  71. Sing C. F., Davignon J. Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet. 1985 Mar;37(2):268–285. [PMC free article] [PubMed] [Google Scholar]
  72. Soria L. F., Ludwig E. H., Clarke H. R., Vega G. L., Grundy S. M., McCarthy B. J. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci U S A. 1989 Jan;86(2):587–591. doi: 10.1073/pnas.86.2.587. [DOI] [PMC free article] [PubMed] [Google Scholar]
  73. Talmud P. J., Lloyd J. K., Muller D. P., Collins D. R., Scott J., Humphries S. Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. J Clin Invest. 1988 Nov;82(5):1803–1806. doi: 10.1172/JCI113795. [DOI] [PMC free article] [PubMed] [Google Scholar]
  74. Utermann G., Duba C., Menzel H. J. Genetics of the quantitative Lp(a) lipoprotein trait. II. Inheritance of Lp(a) glycoprotein phenotypes. Hum Genet. 1988 Jan;78(1):47–50. doi: 10.1007/BF00291233. [DOI] [PubMed] [Google Scholar]
  75. Utermann G., Hardewig A., Zimmer F. Apolipoprotein E phenotypes in patients with myocardial infarction. Hum Genet. 1984;65(3):237–241. doi: 10.1007/BF00286509. [DOI] [PubMed] [Google Scholar]
  76. Utermann G., Kindermann I., Kaffarnik H., Steinmetz A. Apolipoprotein E phenotypes and hyperlipidemia. Hum Genet. 1984;65(3):232–236. doi: 10.1007/BF00286508. [DOI] [PubMed] [Google Scholar]
  77. Utermann G., Kraft H. G., Menzel H. J., Hopferwieser T., Seitz C. Genetics of the quantitative Lp(a) lipoprotein trait. I. Relation of LP(a) glycoprotein phenotypes to Lp(a) lipoprotein concentrations in plasma. Hum Genet. 1988 Jan;78(1):41–46. doi: 10.1007/BF00291232. [DOI] [PubMed] [Google Scholar]
  78. Utermann G., Menzel H. J., Kraft H. G., Duba H. C., Kemmler H. G., Seitz C. Lp(a) glycoprotein phenotypes. Inheritance and relation to Lp(a)-lipoprotein concentrations in plasma. J Clin Invest. 1987 Aug;80(2):458–465. doi: 10.1172/JCI113093. [DOI] [PMC free article] [PubMed] [Google Scholar]
  79. Utermann G., Pruin N., Steinmetz A. Polymorphism of apolipoprotein E. III. Effect of a single polymorphic gene locus on plasma lipid levels in man. Clin Genet. 1979 Jan;15(1):63–72. [PubMed] [Google Scholar]
  80. Utermann G., Weber W. Protein composition of Lp(a) lipoprotein from human plasma. FEBS Lett. 1983 Apr 18;154(2):357–361. doi: 10.1016/0014-5793(83)80182-3. [DOI] [PubMed] [Google Scholar]
  81. Vega G. L., Grundy S. M. In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. J Clin Invest. 1986 Nov;78(5):1410–1414. doi: 10.1172/JCI112729. [DOI] [PMC free article] [PubMed] [Google Scholar]
  82. Wardell M. R., Brennan S. O., Janus E. D., Fraser R., Carrell R. W. Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. J Clin Invest. 1987 Aug;80(2):483–490. doi: 10.1172/JCI113096. [DOI] [PMC free article] [PubMed] [Google Scholar]
  83. Weintraub M. S., Eisenberg S., Breslow J. L. Dietary fat clearance in normal subjects is regulated by genetic variation in apolipoprotein E. J Clin Invest. 1987 Dec;80(6):1571–1577. doi: 10.1172/JCI113243. [DOI] [PMC free article] [PubMed] [Google Scholar]
  84. Weintraub M. S., Eisenberg S., Breslow J. L. Different patterns of postprandial lipoprotein metabolism in normal, type IIa, type III, and type IV hyperlipoproteinemic individuals. Effects of treatment with cholestyramine and gemfibrozil. J Clin Invest. 1987 Apr;79(4):1110–1119. doi: 10.1172/JCI112926. [DOI] [PMC free article] [PubMed] [Google Scholar]
  85. Weisgraber K. H., Bersot T. P., Mahley R. W., Franceschini G., Sirtori C. R. A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins. J Clin Invest. 1980 Nov;66(5):901–907. doi: 10.1172/JCI109957. [DOI] [PMC free article] [PubMed] [Google Scholar]
  86. Weisgraber K. H., Innerarity T. L., Harder K. J., Mahley R. W., Milne R. W., Marcel Y. L., Sparrow J. T. The receptor-binding domain of human apolipoprotein E. Monoclonal antibody inhibition of binding. J Biol Chem. 1983 Oct 25;258(20):12348–12354. [PubMed] [Google Scholar]
  87. Weisgraber K. H., Innerarity T. L., Mahley R. W. Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site. J Biol Chem. 1982 Mar 10;257(5):2518–2521. [PubMed] [Google Scholar]
  88. Weisgraber K. H., Rall S. C., Jr, Bersot T. P., Mahley R. W., Franceschini G., Sirtori C. R. Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I. J Biol Chem. 1983 Feb 25;258(4):2508–2513. [PubMed] [Google Scholar]
  89. Weisgraber K. H., Rall S. C., Jr, Innerarity T. L., Mahley R. W., Kuusi T., Ehnholm C. A novel electrophoretic variant of human apolipoprotein E. Identification and characterization of apolipoprotein E1. J Clin Invest. 1984 Apr;73(4):1024–1033. doi: 10.1172/JCI111287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  90. Williams D. L. Molecular biology in arteriosclerosis research. Arteriosclerosis. 1985 May-Jun;5(3):213–227. doi: 10.1161/01.atv.5.3.213. [DOI] [PubMed] [Google Scholar]
  91. Young S. G., Bertics S. J., Curtiss L. K., Dubois B. W., Witztum J. L. Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100. J Clin Invest. 1987 Jun;79(6):1842–1851. doi: 10.1172/JCI113026. [DOI] [PMC free article] [PubMed] [Google Scholar]
  92. Young S. G., Bertics S. J., Curtiss L. K., Witztum J. L. Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia. J Clin Invest. 1987 Jun;79(6):1831–1841. doi: 10.1172/JCI113025. [DOI] [PMC free article] [PubMed] [Google Scholar]
  93. Young S. G., Northey S. T., McCarthy B. J. Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene. Science. 1988 Jul 29;241(4865):591–593. doi: 10.1126/science.3399894. [DOI] [PubMed] [Google Scholar]
  94. Zannis V. I., Breslow J. L. Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification. Biochemistry. 1981 Feb 17;20(4):1033–1041. doi: 10.1021/bi00507a059. [DOI] [PubMed] [Google Scholar]
  95. Zannis V. I., Breslow J. L., Utermann G., Mahley R. W., Weisgraber K. H., Havel R. J., Goldstein J. L., Brown M. S., Schonfeld G., Hazzard W. R. Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes. J Lipid Res. 1982 Aug;23(6):911–914. [PubMed] [Google Scholar]
  96. Zannis V. I., Just P. W., Breslow J. L. Human apolipoprotein E isoprotein subclasses are genetically determined. Am J Hum Genet. 1981 Jan;33(1):11–24. [PMC free article] [PubMed] [Google Scholar]

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