Abstract
Classic (complete) lecithin:cholesterol acyltransferase (LCAT) deficiency and Fish-eye disease (partial LCAT deficiency) are genetic syndromes associated with markedly decreased plasma levels of high density lipoprotein (HDL) cholesterol but not with an increased risk of atherosclerotic cardiovascular disease. We investigated the metabolism of the HDL apolipoproteins (apo) apoA-I and apoA-II in a total of five patients with LCAT deficiency, one with classic LCAT deficiency and four with Fish-eye disease. Plasma levels of apoA-II were decreased to a proportionately greater extent (23% of normal) than apoA-I (30% of normal). In addition, plasma concentrations of HDL particles containing both apoA-I and apoA-II (LpA-I:A-II) were much lower (18% of normal) than those of particles containing only apoA-I (LpA-I) (51% of normal). The metabolic basis for the low levels of apoA-II and LpA-I:A-II was investigated in all five patients using both exogenous radiotracer and endogenous stable isotope labeling techniques. The mean plasma residence time of apoA-I was decreased at 2.08 +/- 0.27 d (controls 4.74 +/- 0.65 days); however, the residence time of apoA-II was even shorter at 1.66 +/- 0.24 d (controls 5.25 +/- 0.61 d). In addition, the catabolism of apoA-I in LpA-I:A-II was substantially faster than that of apoA-I in LpA-I. In summary, genetic syndromes of either complete or partial LCAT deficiency result in low levels of HDL through preferential hypercatabolism of apoA-II and HDL particles containing apoA-II. Because LpA-I has been proposed to be more protective than LpA-I:A-II against atherosclerosis, this selective effect on the metabolism of LpA-I:A-II may provide a potential explanation why patients with classic LCAT deficiency and Fish-eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA-I.
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Selected References
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- Alaupovic P., Lee D. M., McConathy W. J. Studies on the composition and structure of plasma lipoproteins. Distribution of lipoprotein families in major density classes of normal human plasma lipoproteins. Biochim Biophys Acta. 1972 Apr 18;260(4):689–707. [PubMed] [Google Scholar]
- Babiak J., Tamachi H., Johnson F. L., Parks J. S., Rudel L. L. Lecithin:cholesterol acyltransferase-induced modifications of liver perfusate discoidal high density lipoproteins from African green monkeys. J Lipid Res. 1986 Dec;27(12):1304–1317. [PubMed] [Google Scholar]
- Barbaras R., Puchois P., Fruchart J. C., Ailhaud G. Cholesterol efflux from cultured adipose cells is mediated by LpAI particles but not by LpAI:AII particles. Biochem Biophys Res Commun. 1987 Jan 15;142(1):63–69. doi: 10.1016/0006-291x(87)90451-7. [DOI] [PubMed] [Google Scholar]
- Brewer H. B., Jr, Fairwell T., LaRue A., Ronan R., Houser A., Bronzert T. J. The amino acid sequence of human APOA-I, an apolipoprotein isolated from high density lipoproteins. Biochem Biophys Res Commun. 1978 Feb 14;80(3):623–630. doi: 10.1016/0006-291x(78)91614-5. [DOI] [PubMed] [Google Scholar]
- Brewer H. B., Jr, Lux S. E., Ronan R., John K. M. Amino acid sequence of human apoLp-Gln-II (apoA-II), an apolipoprotein isolated from the high-density lipoprotein complex. Proc Natl Acad Sci U S A. 1972 May;69(5):1304–1308. doi: 10.1073/pnas.69.5.1304. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Brinton E. A., Eisenberg S., Breslow J. L. A low-fat diet decreases high density lipoprotein (HDL) cholesterol levels by decreasing HDL apolipoprotein transport rates. J Clin Invest. 1990 Jan;85(1):144–151. doi: 10.1172/JCI114405. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Brinton E. A., Eisenberg S., Breslow J. L. Elevated high density lipoprotein cholesterol levels correlate with decreased apolipoprotein A-I and A-II fractional catabolic rate in women. J Clin Invest. 1989 Jul;84(1):262–269. doi: 10.1172/JCI114149. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Brinton E. A., Eisenberg S., Breslow J. L. Increased apo A-I and apo A-II fractional catabolic rate in patients with low high density lipoprotein-cholesterol levels with or without hypertriglyceridemia. J Clin Invest. 1991 Feb;87(2):536–544. doi: 10.1172/JCI115028. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bujo H., Kusunoki J., Ogasawara M., Yamamoto T., Ohta Y., Shimada T., Saito Y., Yoshida S. Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease. Biochem Biophys Res Commun. 1991 Dec 31;181(3):933–940. doi: 10.1016/0006-291x(91)92026-g. [DOI] [PubMed] [Google Scholar]
- Carlson L. A. Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia. Eur J Clin Invest. 1982 Feb;12(1):41–53. doi: 10.1111/j.1365-2362.1982.tb00938.x. [DOI] [PubMed] [Google Scholar]
- Carlson L. A., Holmquist L. Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. Acta Med Scand. 1985;218(2):189–196. doi: 10.1111/j.0954-6820.1985.tb08846.x. [DOI] [PubMed] [Google Scholar]
- Carlson L. A., Holmquist L. Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects. Acta Med Scand. 1985;218(2):197–205. doi: 10.1111/j.0954-6820.1985.tb08847.x. [DOI] [PubMed] [Google Scholar]
- Carlson L. A., Holmquist L. Studies on high density lipoproteins in fish eye disease. Acta Med Scand. 1983;213(3):177–182. doi: 10.1111/j.0954-6820.1983.tb03713.x. [DOI] [PubMed] [Google Scholar]
- Chen C., Applegate K., King W. C., Glomset J. A., Norum K. R., Gjone E. A study of the small spherical high density lipoproteins of patients afflicted with familial lecithin: cholesterol acyltransferase deficiency. J Lipid Res. 1984 Mar;25(3):269–282. [PubMed] [Google Scholar]
- Cheung M. C., Albers J. J. Characterization of lipoprotein particles isolated by immunoaffinity chromatography. Particles containing A-I and A-II and particles containing A-I but no A-II. J Biol Chem. 1984 Oct 10;259(19):12201–12209. [PubMed] [Google Scholar]
- Cheung M. C., Lum K. D., Brouillette C. G., Bisgaier C. L. Characterization of apoA-I-containing lipoprotein subpopulations secreted by HepG2 cells. J Lipid Res. 1989 Sep;30(9):1429–1436. [PubMed] [Google Scholar]
- Cheung M. C., Wolf A. C. In vitro transformation of apoA-I-containing lipoprotein subpopulations: role of lecithin:cholesterol acyltransferase and apoB-containing lipoproteins. J Lipid Res. 1989 Apr;30(4):499–509. [PubMed] [Google Scholar]
- Cheung M. C., Wolf A. C., Lum K. D., Tollefson J. H., Albers J. J. Distribution and localization of lecithin:cholesterol acyltransferase and cholesteryl ester transfer activity in A-I-containing lipoproteins. J Lipid Res. 1986 Nov;27(11):1135–1144. [PubMed] [Google Scholar]
- Clerc M., Dumon M. F., Sess D., Freneix-Clerc M., Mackness M., Conri C. A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features. Eur J Clin Invest. 1991 Dec;21(6):616–624. doi: 10.1111/j.1365-2362.1991.tb01418.x. [DOI] [PubMed] [Google Scholar]
- Cobelli C., Toffolo G., Foster D. M. Tracer-to-tracee ratio for analysis of stable isotope tracer data: link with radioactive kinetic formalism. Am J Physiol. 1992 Jun;262(6 Pt 1):E968–E975. doi: 10.1152/ajpendo.1992.262.6.E968. [DOI] [PubMed] [Google Scholar]
- Cohn J. S., Wagner D. A., Cohn S. D., Millar J. S., Schaefer E. J. Measurement of very low density and low density lipoprotein apolipoprotein (Apo) B-100 and high density lipoprotein Apo A-I production in human subjects using deuterated leucine. Effect of fasting and feeding. J Clin Invest. 1990 Mar;85(3):804–811. doi: 10.1172/JCI114507. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cryer D. R., Matsushima T., Marsh J. B., Yudkoff M., Coates P. M., Cortner J. A. Direct measurement of apolipoprotein B synthesis in human very low density lipoprotein using stable isotopes and mass spectrometry. J Lipid Res. 1986 May;27(5):508–516. [PubMed] [Google Scholar]
- Dobiasova M., Stribrna J., Sparks D. L., Pritchard P. H., Frohlich J. J. Cholesterol esterification rates in very low density lipoprotein- and low density lipoprotein-depleted plasma. Relation to high density lipoprotein subspecies, sex, hyperlipidemia, and coronary artery disease. Arterioscler Thromb. 1991 Jan-Feb;11(1):64–70. doi: 10.1161/01.atv.11.1.64. [DOI] [PubMed] [Google Scholar]
- Dobiásová M. Lecithin: cholesterol acyltransferase and the regulation of endogenous cholesterol transport. Adv Lipid Res. 1983;20:107–194. [PubMed] [Google Scholar]
- Emmerich J., Vergès B., Tauveron I., Rader D., Santamarina-Fojo S., Shaefer J., Ayrault-Jarrier M., Thiéblot P., Brewer H. B., Jr Familial HDL deficiency due to marked hypercatabolism of normal apoA-I. Arterioscler Thromb. 1993 Sep;13(9):1299–1306. doi: 10.1161/01.atv.13.9.1299. [DOI] [PubMed] [Google Scholar]
- Fidge N., Nestel P., Ishikawa T., Reardon M., Billington T. Turnover of apoproteins A-I and A-II of high density lipoprotein and the relationship to other lipoproteins in normal and hyperlipidemic individuals. Metabolism. 1980 Jul;29(7):643–653. doi: 10.1016/0026-0495(80)90109-2. [DOI] [PubMed] [Google Scholar]
- Fielding P. E., Miida T., Fielding C. J. Metabolism of low-density lipoprotein free cholesterol by human plasma lecithin-cholesterol acyltransferase. Biochemistry. 1991 Sep 3;30(35):8551–8557. doi: 10.1021/bi00099a009. [DOI] [PubMed] [Google Scholar]
- Forte T. M., Carlson L. A. Electron microscopic structure of serum lipoproteins from patients with fish eye disease. Arteriosclerosis. 1984 Mar-Apr;4(2):130–137. doi: 10.1161/01.atv.4.2.130. [DOI] [PubMed] [Google Scholar]
- Forte T., Norum K. R., Glomset J. A., Nichols A. V. Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: structure of low and high density lipoproteins as revealed by elctron microscopy. J Clin Invest. 1971 May;50(5):1141–1148. doi: 10.1172/JCI106586. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Francone O. L., Gurakar A., Fielding C. Distribution and functions of lecithin:cholesterol acyltransferase and cholesteryl ester transfer protein in plasma lipoproteins. Evidence for a functional unit containing these activities together with apolipoproteins A-I and D that catalyzes the esterification and transfer of cell-derived cholesterol. J Biol Chem. 1989 Apr 25;264(12):7066–7072. [PubMed] [Google Scholar]
- Frohlich J., Hoag G., McLeod R., Hayden M., Godin D. V., Wadsworth L. D., Critchley J. D., Pritchard P. H. Hypoalphalipoproteinemia resembling fish eye disease. Acta Med Scand. 1987;221(3):291–298. doi: 10.1111/j.0954-6820.1987.tb00896.x. [DOI] [PubMed] [Google Scholar]
- Funke H., von Eckardstein A., Pritchard P. H., Albers J. J., Kastelein J. J., Droste C., Assmann G. A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. Proc Natl Acad Sci U S A. 1991 Jun 1;88(11):4855–4859. doi: 10.1073/pnas.88.11.4855. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Funke H., von Eckardstein A., Pritchard P. H., Hornby A. E., Wiebusch H., Motti C., Hayden M. R., Dachet C., Jacotot B., Gerdes U. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J Clin Invest. 1993 Feb;91(2):677–683. doi: 10.1172/JCI116248. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Glomset J. A., Janssen E. T., Kennedy R., Dobbins J. Role of plasma lecithin:cholesterol acyltransferase in the metabolism of high density lipoproteins. J Lipid Res. 1966 Sep;7(5):638–648. [PubMed] [Google Scholar]
- Glomset J. A., Norum K. R., King W. Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: lipid composition and reactivity in vitro. J Clin Invest. 1970 Oct;49(10):1827–1837. doi: 10.1172/JCI106400. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Glomset J. A. The plasma lecithins:cholesterol acyltransferase reaction. J Lipid Res. 1968 Mar;9(2):155–167. [PubMed] [Google Scholar]
- Gordon D. J., Rifkind B. M. High-density lipoprotein--the clinical implications of recent studies. N Engl J Med. 1989 Nov 9;321(19):1311–1316. doi: 10.1056/NEJM198911093211907. [DOI] [PubMed] [Google Scholar]
- Gotoda T., Yamada N., Murase T., Sakuma M., Murayama N., Shimano H., Kozaki K., Albers J. J., Yazaki Y., Akanuma Y. Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. Lancet. 1991 Sep 28;338(8770):778–781. doi: 10.1016/0140-6736(91)90665-c. [DOI] [PubMed] [Google Scholar]
- Green P. H., Tall A. R., Glickman R. M. Rat intestine secretes discoid high density lipoprotein. J Clin Invest. 1978 Feb;61(2):528–534. doi: 10.1172/JCI108963. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gylling H., Miettinen T. A. Non-cholesterol sterols, absorption and synthesis of cholesterol and apolipoprotein A-I kinetics in a Finnish lecithin-cholesterol acyltransferase deficient family. Atherosclerosis. 1992 Jul;95(1):25–33. doi: 10.1016/0021-9150(92)90172-d. [DOI] [PubMed] [Google Scholar]
- HAVEL R. J., EDER H. A., BRAGDON J. H. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest. 1955 Sep;34(9):1345–1353. doi: 10.1172/JCI103182. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hamilton R. L., Williams M. C., Fielding C. J., Havel R. J. Discoidal bilayer structure of nascent high density lipoproteins from perfused rat liver. J Clin Invest. 1976 Sep;58(3):667–680. doi: 10.1172/JCI108513. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jonas A. Lecithin-cholesterol acyltransferase in the metabolism of high-density lipoproteins. Biochim Biophys Acta. 1991 Jul 30;1084(3):205–220. doi: 10.1016/0005-2760(91)90062-m. [DOI] [PubMed] [Google Scholar]
- Klein H. G., Lohse P., Duverger N., Albers J. J., Rader D. J., Zech L. A., Santamarina-Fojo S., Brewer H. B., Jr Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn). J Lipid Res. 1993 Jan;34(1):49–58. [PubMed] [Google Scholar]
- Klein H. G., Lohse P., Pritchard P. H., Bojanovski D., Schmidt H., Brewer H. B., Jr Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met). J Clin Invest. 1992 Feb;89(2):499–506. doi: 10.1172/JCI115612. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Klein H. G., Santamarina-Fojo S., Duverger N., Clerc M., Dumon M. F., Albers J. J., Marcovina S., Brewer H. B., Jr Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis. J Clin Invest. 1993 Jul;92(1):479–485. doi: 10.1172/JCI116591. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Koren E., Puchois P., Alaupovic P., Fesmire J., Kandoussi A., Fruchart J. C. Quantification of two different types of apolipoprotein A-I containing lipoprotein particles in plasma by enzyme-linked differential-antibody immunosorbent assay. Clin Chem. 1987 Jan;33(1):38–43. [PubMed] [Google Scholar]
- Lager D. J., Rosenberg B. F., Shapiro H., Bernstein J. Lecithin cholesterol acyltransferase deficiency: ultrastructural examination of sequential renal biopsies. Mod Pathol. 1991 May;4(3):331–335. [PubMed] [Google Scholar]
- Marcel Y. L., Vezina C., Emond D., Suzue G. Heterogeneity of human high density lipoprotein: presence of lipoproteins with and without apoE and their roles as substrates for lecithin:cholesterol acyltransferase reaction. Proc Natl Acad Sci U S A. 1980 May;77(5):2969–2973. doi: 10.1073/pnas.77.5.2969. [DOI] [PMC free article] [PubMed] [Google Scholar]
- McCall M. R., Forte T. M., Shore V. G. Heterogeneity of nascent high density lipoproteins secreted by the hepatoma-derived cell line, Hep G2. J Lipid Res. 1988 Sep;29(9):1127–1137. [PubMed] [Google Scholar]
- Mehrabian M., Qiao J. H., Hyman R., Ruddle D., Laughton C., Lusis A. J. Influence of the apoA-II gene locus on HDL levels and fatty streak development in mice. Arterioscler Thromb. 1993 Jan;13(1):1–10. doi: 10.1161/01.atv.13.1.1. [DOI] [PubMed] [Google Scholar]
- 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]
- Mitchell C. D., King W. C., Applegate K. R., Forte T., Glomset J. A., Norum K. R., Gjone E. Characterization of apolipoprotein E-rich high density lipoproteins in familial lecithin:cholesterol acyltransferase deficiency. J Lipid Res. 1980 Jul;21(5):625–634. [PubMed] [Google Scholar]
- Norum K. R., Glomset J. A., Nichols A. V., Forte T., Albers J. J., King W. C., Mitchell C. D., Applegate K. R., Gong E. L., Cabana V. Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: effects of incubation with lecithin: cholesterol acyltransferase in vitro. Scand J Clin Lab Invest Suppl. 1975;142:31–55. [PubMed] [Google Scholar]
- Norum K. R., Glomset J. A., Nichols A. V., Forte T. Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: physical and chemical studies of low and high density lipoproteins. J Clin Invest. 1971 May;50(5):1131–1140. doi: 10.1172/JCI106585. [DOI] [PMC free article] [PubMed] [Google Scholar]
- O K., Hill J. S., Wang X., Pritchard P. H. Recombinant lecithin:cholesterol acyltransferase containing a Thr123-->Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein. J Lipid Res. 1993 Jan;34(1):81–88. [PubMed] [Google Scholar]
- Parra H. J., Arveiler D., Evans A. E., Cambou J. P., Amouyel P., Bingham A., McMaster D., Schaffer P., Douste-Blazy P., Luc G. A case-control study of lipoprotein particles in two populations at contrasting risk for coronary heart disease. The ECTIM Study. Arterioscler Thromb. 1992 Jun;12(6):701–707. doi: 10.1161/01.atv.12.6.701. [DOI] [PubMed] [Google Scholar]
- Parra H. J., Mezdour H., Ghalim N., Bard J. M., Fruchart J. C. Differential electroimmunoassay of human LpA-I lipoprotein particles on ready-to-use plates. Clin Chem. 1990 Aug;36(8 Pt 1):1431–1435. [PubMed] [Google Scholar]
- Puchois P., Kandoussi A., Fievet P., Fourrier J. L., Bertrand M., Koren E., Fruchart J. C. Apolipoprotein A-I containing lipoproteins in coronary artery disease. Atherosclerosis. 1987 Nov;68(1-2):35–40. doi: 10.1016/0021-9150(87)90091-8. [DOI] [PubMed] [Google Scholar]
- Rader D. J., Castro G., Zech L. A., Fruchart J. C., Brewer H. B., Jr In vivo metabolism of apolipoprotein A-I on high density lipoprotein particles LpA-I and LpA-I,A-II. J Lipid Res. 1991 Nov;32(11):1849–1859. [PubMed] [Google Scholar]
- Rao S. N., Magill P. J., Miller N. E., Lewis B. Plasma high-density lipoprotein metabolism in subjects with primary hypertriglyceridaemia: altered metabolism of apoproteins AI and AII. Clin Sci (Lond) 1980 Nov;59(5):359–367. doi: 10.1042/cs0590359. [DOI] [PubMed] [Google Scholar]
- Saku K., Gartside P. S., Hynd B. A., Mendoza S. G., Kashyap M. L. Apolipoprotein AI and AII metabolism in patients with primary high-density lipoprotein deficiency associated with familial hypertriglyceridemia. Metabolism. 1985 Aug;34(8):754–764. doi: 10.1016/0026-0495(85)90027-7. [DOI] [PubMed] [Google Scholar]
- Schaefer E. J., Zech L. A., Jenkins L. L., Bronzert T. J., Rubalcaba E. A., Lindgren F. T., Aamodt R. L., Brewer H. B., Jr Human apolipoprotein A-I and A-II metabolism. J Lipid Res. 1982 Aug;23(6):850–862. [PubMed] [Google Scholar]
- Schaefer J. R., Rader D. J., Ikewaki K., Fairwell T., Zech L. A., Kindt M. R., Davignon J., Gregg R. E., Brewer H. B., Jr In vivo metabolism of apolipoprotein A-I in a patient with homozygous familial hypercholesterolemia. Arterioscler Thromb. 1992 Jul;12(7):843–848. doi: 10.1161/01.atv.12.7.843. [DOI] [PubMed] [Google Scholar]
- Schultz J. R., Verstuyft J. G., Gong E. L., Nichols A. V., Rubin E. M. Protein composition determines the anti-atherogenic properties of HDL in transgenic mice. Nature. 1993 Oct 21;365(6448):762–764. doi: 10.1038/365762a0. [DOI] [PubMed] [Google Scholar]
- Skretting G., Blomhoff J. P., Solheim J., Prydz H. The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. FEBS Lett. 1992 Sep 14;309(3):307–310. doi: 10.1016/0014-5793(92)80795-i. [DOI] [PubMed] [Google Scholar]
- Skretting G., Prydz H. An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. Biochem Biophys Res Commun. 1992 Jan 31;182(2):583–587. doi: 10.1016/0006-291x(92)91772-i. [DOI] [PubMed] [Google Scholar]
- Soutar A. K., Knight B. L., Myant N. B. The characterization of lipoproteins in the high density fraction obtained from patients with familial lecithin:cholesterol acyltransferase deficiency and their interaction with cultured human fibroblasts. J Lipid Res. 1982 Mar;23(3):380–390. [PubMed] [Google Scholar]
- Stampfer M. J., Sacks F. M., Salvini S., Willett W. C., Hennekens C. H. A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction. N Engl J Med. 1991 Aug 8;325(6):373–381. doi: 10.1056/NEJM199108083250601. [DOI] [PubMed] [Google Scholar]
- Taramelli R., Pontoglio M., Candiani G., Ottolenghi S., Dieplinger H., Catapano A., Albers J., Vergani C., McLean J. Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele. Hum Genet. 1990 Jul;85(2):195–199. doi: 10.1007/BF00193195. [DOI] [PubMed] [Google Scholar]
- Torsvik H. Studies on the protein moiety of serum high density lipoprotein from patients with familial lecithin: cholesterol acyltransferase deficiency. Clin Genet. 1972;3(3):188–200. doi: 10.1111/j.1399-0004.1972.tb01458.x. [DOI] [PubMed] [Google Scholar]
- Utermann G., Menzel H. J., Langer K. H., Dieker P. Lipoproteins in lecithin-cholesterol-acyltransferase(LCAT)-deficiency. II. Further studies on the abnormal high-density-lipoproteins. Humangenetik. 1975;27(3):185–187. doi: 10.1007/BF00278345. [DOI] [PubMed] [Google Scholar]
- Utermann G., Schoenborn W., Langer K. H., Dieker P. Lipoproteins in LCAT-deficiency. Humangenetik. 1972;16(4):295–306. doi: 10.1007/BF00283977. [DOI] [PubMed] [Google Scholar]
- Warden C. H., Hedrick C. C., Qiao J. H., Castellani L. W., Lusis A. J. Atherosclerosis in transgenic mice overexpressing apolipoprotein A-II. Science. 1993 Jul 23;261(5120):469–472. doi: 10.1126/science.8332912. [DOI] [PubMed] [Google Scholar]
- Warnick G. R., Cheung M. C., Albers J. J. Comparison of current methods for high-density lipoprotein cholesterol quantitation. Clin Chem. 1979 Apr;25(4):596–604. [PubMed] [Google Scholar]
- Winkler K. E., Marsh J. B. Characterization of nascent high density lipoprotein subfractions from perfusates of rat liver. J Lipid Res. 1989 Jul;30(7):979–987. [PubMed] [Google Scholar]
- Zech L. A., Schaefer E. J., Bronzert T. J., Aamodt R. L., Brewer H. B., Jr Metabolism of human apolipoproteins A-I and A-II: compartmental models. J Lipid Res. 1983 Jan;24(1):60–71. [PubMed] [Google Scholar]