Abstract
Familial hypocholesterolemia and HDL deficiency are often associa ted in a heterogeneous family of hereditary diseases.
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References
C. Vergani and G. Bettale, Familial hypo-alpha-lipoproteinemia, Clin. Chim. Acta, 114, 45–52 (1981).
A. Gustafson, W.Nc. Conathy, P. Alaupovic, M.D. Curry and B. Persson, Identification of apoprotein families in a variant of human apolipoprotein A deficiency, Scand. J. Clin. Lab. Invest., 39, 377– 383 (1979).
R.A. Norum, J.B. Sakier, S. Goldstein, A. Angel, R.B. Goldberg, W.D. Block, D.K. Noffee, P.J. Dolphin, J. Fdelglass, D.D. Borograd and P. Alaupovic, Familial deficiency of apolipoproteins A-I and C-III and precocius coronary-artery disease, N. Engl. J. Med., 306, 1513–1519 (1982).
C.S. Shoulders, M.J. Ball and F.E. Beralle, Variation in the apo A-I, C-III, A-IV gene complex : its association with hypertrigly ceridemia, Atherosclerosis, 80, 111–118 (1989).
E.J. Schalffer, W.H. Heaton, M.G. Wetzel and H.B. Brewer, Plasma apolipoprotein A-I absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease, Arteriosclerosis, 2, 16–26 (1982).
A.V. Eckardstein, H. Funke, A. Heuke, K. Atland, A. Benninghoven and G. Assmann, Apolipoprotein A-I variants, J. Clin. Invest., 84, 1722–1730, (1989).
M.F. Dumon, M. Clerc and M. Clerc, Apolipoprotein A-I deficiency in Tangier disease, in : Eicosanoids, apolipoproteins, lipoprotein particles, and atherosclerosis, C.L. Malmendier and P. Alaupovic (Eds), Plenum Press, New-York, 67–73 (1988).
L.A. Carlson and B. Philipson, Fish-Eye disease a new familial condition with massive corneal opacities and dyslipoproteinemia, Lancet, II, 921–923 (1979).
P.N. Herbert, G. Assamnn, A.M. Gotto and D.S. Fredrickson Familial lipoprotein deficiency, in : Metabolic Basis of inherited disease, M.S. Brown (Ed), Mac Graw Hill, New-York, 589–621 (1983).
K.R. Norum and F. Djone, Familial plasma lecithin : cholesterol acyltransferase deficiency. Biochemical study of a new inborn error of metabolism, Scand. J. Clin. Lab. Invest., 20, 231–238 (1967).
S.K. Karathanasis, R.A. Norum, V.I. Zannis and J. Breslow, An inherited polymorphism in the human apolipoprotein A-I gene locus related to development of atherosclerosis, Nature, 301, 718–720 (1983).
A. Rees, J. Stocks, C. Schoulders, L.A. Carlson, F.E. Baralle and D.J. Galton, Restriction enzyme analysis of the apolipoprotein A-I gene in Fish-eye disease and Tangier disease, Acta Med. Scand., 215, 235–237 (1984).
S.K. Karathanasis, Apolipoprotein multigen family : tandem organi zation of human apolipoprotein A-I, C-III and A-IV genes, Proc. Natl. Acad. Sci. USA, 82, 6374–6378 (1985).
H.N. Ginsberg, N.A. Le, I.J. Goldberg, J.C. Gibson, A. Rubinstein, P.W. Iverson, R. Norum and V. Brown, Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins C-III and A-I. J. Clin. Invest., 78, 1287–1295 (1986).
A.M. Kessling, J. Rajput-Williams, D. Baiton, J. Scott, N.E. Miller, I. Baker and S.E. Humphries, DNA polymorphisms of the apoliprotein A-II and A-I, C-III, A-IV genes : A study in men selected for differences in high density -lipoprotein cholesterol concentration, Am. J. Hum. Genet., 42, 458–467 (1988).
J.L. Breslow, Apolipoprotein genetic variation and human disease, Physiol. Rev., 68, 85–132 (1988).
G. Schmitz, G. Assmann, H. Robenek and B. Brennhausen, Tangier disease : A disorder of intracellular membrane traffic, Proc. Natl. Acad. Sci. USA, 82, 6305–6309 (1985).
C.S. Wang, P. Alaupovic, R.E. Gregg and H.B. Brewer, Studies on the mechanism of hypertriglyceridemia in Tangier disease. Determination of plasma lipolytic activies, Kl values and apolipoprotein composition of the major lipoprotein density classes, Biochim. Biophvs. Acta, 920, 9–19 (1987).
M.F. Dumon, R.Q. Dang, R. Salvayre, M. Clerc and L. Douste-Blazy, Modified lipid protein interactions in Tangier LDL2 demonstrated by fluorescence quenching, Chem. Phys. Lipids, 49, 153–160 (1988).
M.F. Dumon, M. Freneix-Clerc, E. Peuchant and M. Clerc, Apos A-I A-II et B dans deux situations d’hypocholesterolemie héréditaire. Symp. Behring, Paris, 20 oct., C.R. p. 313 (1989).
M.F. Dumon, L. Dubourg, T. Jasawant, Y. Auche et M. Clerc, Bilan biochimique et bioclinique d’un nouveau cas de maladie de Tangier, Ann. Biol. Clin., 4, 681 (1985).
M.F. Dumon, S. Visvikis, T. Manabe and M. Clerc, Immunochemical study of the plasma low and high density lipoproteins in Tangier disease, FEBS Letters, 201, 163–167 (1986).
S. Visvikis, M.F. Dumon, J. Steinmetz, T. Manabe, M.M. Galteau, M. Clerc and G. Siest, Plasma apolipoproteins in Tangier disease : a study by two dimensional electrophoresis, Clin. Chem., 33, 120– 122 (1987).
M.M. Mackness, E. Peuchant, M.F. Dumon, C.H. Walker and M. CLerc, Absence of AEsterase activity in the serum of a patient with Tangier disease, Clin. Biochem., 22, 475–478 (1989).
M.F. Dumon and M. Clerc, Combination of affinity chromatography and analytical polyacrylamide gel electrophoresis for rapid measurement of human HDL apolipoproteins, Anal. Biochem., 41, 25–32 (1984).
L.P. Cawley, Immunofixation electrophoretic technique applied to identification of proteins in serum and cerebrospinal fenid, Clin. Chem., 22, 1262–1268 (1976).
L. Holmquist and L.A. Carlson, Alpha Lecithin : cholesterol acyltransferase deficiency-lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein LCAT in Fish-Eye disease, Acta. Med. Scand., 222, 23–26 (1987).
K.H. Weisgraber and S.C. Rall, Human apolipoprotein B-100 heparin binding sites, Journ. Biol. Chem., 262, 11007–11103 (1987).
Y.T. Pan, A.W. Kruski and A.D. Elbein, Binding of [3H] heparin to human plasma low density lipoprotein, Arch. Biochem. Biophys., 189, 231–240 (1978).
Z.H. Beg, J.A. Stonik, J.M. Hoeg, S.T. Demosky, T. Fairwell and H.B. Brewer, Human apolipoprotein A-1. Post-translational modification by covalent phosphorylation, Journ. Biol. Chem., 264, 6913–6921 (1989).
A. Ress, J. Stocks, C. Shoulders, L.A. Carlson, F.E. Baralle and D.J. Galton, Restriction enzyme analysis of apolipoprotein A-I gene in Fish-Eye disease and Tangier disease, Acta. Med. Scand., 215, 235–237 (1984).
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© 1990 Plenum Press, New York
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Dumon, MF., Freneix-Clerc, M., Maviel, MJ., Clerc, M. (1990). Familial Hypocholesterolemia and HDL Deficiency. In: Malmendier, C.L., Alaupovic, P., Brewer, H.B. (eds) Hypercholesterolemia, Hypocholesterolemia, Hypertriglyceridemia, in Vivo Kinetics. Advances in Experimental Medicine and Biology, vol 285. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5904-3_21
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DOI: https://doi.org/10.1007/978-1-4684-5904-3_21
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