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Volumn 16, Issue 4, 2002, Pages 283-287

Lipoprotein lipase deficiency - Rare or common?

Author keywords

Cardiovascular disease; Chylomicronemia; Lipoprotein lipase; LPL deficiency

Indexed keywords

ANTIOXIDANT; CHYLOMICRON; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

EID: 0036983822     PISSN: 09203206     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021721707639     Document Type: Conference Paper
Times cited : (22)

References (30)
  • 2
    • 0032760683 scopus 로고    scopus 로고
    • Lipoprotein lipase, a key role in atherosclerosis?
    • Mead JR, Cryer A, Ramji DP. Lipoprotein lipase, a key role in atherosclerosis? FEBS Lett 1999;462(1-2):1-6.
    • (1999) FEBS Lett , vol.462 , Issue.1-2 , pp. 1-6
    • Mead, J.R.1    Cryer, A.2    Ramji, D.P.3
  • 3
    • 0013061429 scopus 로고    scopus 로고
    • The molecular biology and genetics of human lipoprotein lipase
    • Betteridge DJ, Illingworth DR, Shepherd J, eds. London: Oxford University Press
    • Hayden M, Henderson HE. The molecular biology and genetics of human lipoprotein lipase. In: Betteridge DJ, Illingworth DR, Shepherd J, eds. Lipoproteins in Health and Disease. London: Oxford University Press, 1999:247-260.
    • (1999) Lipoproteins in Health and Disease , pp. 247-260
    • Hayden, M.1    Henderson, H.E.2
  • 4
    • 0001033625 scopus 로고
    • Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
    • Scriver C, Baudet A, Sly W, Valle D, eds. New York: McGraw-Hill
    • Brunzell J. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver C, Baudet A, Sly W, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 7th ed. New York: McGraw-Hill, 1995:1913-1932.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. , pp. 1913-1932
    • Brunzell, J.1
  • 5
    • 0025940314 scopus 로고
    • Lipoprotein lipase enhances the binding of chylomicrons to low density lipoprotein receptor-related protein
    • Beisiegel U, Weber W, Bengtsson-Olivecrona G. Lipoprotein lipase enhances the binding of chylomicrons to low density lipoprotein receptor-related protein. Proc Nat Acad Sci 1991;88:8342-8346.
    • (1991) Proc Nat Acad Sci , vol.88 , pp. 8342-8346
    • Beisiegel, U.1    Weber, W.2    Bengtsson-Olivecrona, G.3
  • 6
    • 0001741608 scopus 로고    scopus 로고
    • Lipoprotein and hepatic lipase in lipoprotein metabolism
    • Betterdige DJ, Illingworth DR, Shepherd J, eds. London: Arnold Publishers
    • Olivecrona T, Olivecrona G. Lipoprotein and hepatic lipase in lipoprotein metabolism. In: Betterdige DJ, Illingworth DR, Shepherd J, eds. Lipoproteins in Health and Disease. London: Arnold Publishers, 1999:223-246.
    • (1999) Lipoproteins in Health and Disease , pp. 223-246
    • Olivecrona, T.1    Olivecrona, G.2
  • 7
    • 0035292694 scopus 로고    scopus 로고
    • Lipoprotein lipase: Physiology, biochemistry, and molecular biology
    • Review
    • Goldberg IJ, Merkel M. Lipoprotein lipase: Physiology, biochemistry, and molecular biology. Front Biosci 2001;6:D388-405. Review.
    • (2001) Front Biosci , vol.6
    • Goldberg, I.J.1    Merkel, M.2
  • 8
    • 0026753660 scopus 로고
    • Heparan sulfate proteoglycans are invovled in the lipoprotein lipase-mediated enhancement of the cellular binding of very low density and low density lipoproteins
    • Mulder M, Lombardi P, Jansen H, van Berkel TJ, Frants RR, Havekes LM. Heparan sulfate proteoglycans are invovled in the lipoprotein lipase-mediated enhancement of the cellular binding of very low density and low density lipoproteins. Biochem Biophys Res Commun 1992;185(2):582-587.
    • (1992) Biochem Biophys Res Commun , vol.185 , Issue.2 , pp. 582-587
    • Mulder, M.1    Lombardi, P.2    Jansen, H.3    Van Berkel, T.J.4    Frants, R.R.5    Havekes, L.M.6
  • 9
    • 0031666919 scopus 로고    scopus 로고
    • The familial chylomicronemia syndrome
    • Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am 1998;27(3):551-567, viii.
    • (1998) Endocrinol Metab Clin North Am , vol.27 , Issue.3 , pp. 551-567
    • Santamarina-Fojo, S.1
  • 10
    • 0035033247 scopus 로고    scopus 로고
    • Lipoprotein lipase (LPL) deficiency: A new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% Are clustered in exon 5 and 6
    • Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P-M. Lipoprotein lipase (LPL) deficiency: A new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exon 5 and 6. Ann Genet 2001;44:25-32.
    • (2001) Ann Genet , vol.44 , pp. 25-32
    • Gilbert, B.1    Rouis, M.2    Griglio, S.3    De Lumley, L.4    Laplaud, P.-M.5
  • 11
    • 0032478291 scopus 로고    scopus 로고
    • A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia
    • Wittekoek ME, Primstone SN, Reymer PWA, et al. A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia. Circulation 1998;97:729-735.
    • (1998) Circulation , vol.97 , pp. 729-735
    • Wittekoek, M.E.1    Primstone, S.N.2    Reymer, P.W.A.3
  • 12
    • 0032718547 scopus 로고    scopus 로고
    • A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia
    • Wittekoek ME, Moll E, Pimstone SN, et al. A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia. Aterioscler Thromb Vasc Biol 1999;19:2708-2713.
    • (1999) Aterioscler Thromb Vasc Biol , vol.19 , pp. 2708-2713
    • Wittekoek, M.E.1    Moll, E.2    Pimstone, S.N.3
  • 13
    • 0030848547 scopus 로고    scopus 로고
    • Heterozygous lipoprotein lipase deficiency: Frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease
    • Nordestgaard BG, Abildgaard S, Wittrup HH, Steffensen R, Jensen G, Tybjaerg-Hansen A. Heterozygous lipoprotein lipase deficiency: Frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease. Circulation 1997;96(6):1737-1744.
    • (1997) Circulation , vol.96 , Issue.6 , pp. 1737-1744
    • Nordestgaard, B.G.1    Abildgaard, S.2    Wittrup, H.H.3    Steffensen, R.4    Jensen, G.5    Tybjaerg-Hansen, A.6
  • 14
    • 0029838433 scopus 로고    scopus 로고
    • Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: A meta-analysis of population-based prospective studies
    • Hokanson JE, Austin MA. Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: A meta-analysis of population-based prospective studies. J Cardiovasc Risk 1996;3(2):213-219.
    • (1996) J Cardiovasc Risk , vol.3 , Issue.2 , pp. 213-219
    • Hokanson, J.E.1    Austin, M.A.2
  • 15
    • 0029047717 scopus 로고
    • A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
    • Reymer PW, Gagne E, Groenemeyer BE, et al. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet 1995;10(1):28-34.
    • (1995) Nat Genet , vol.10 , Issue.1 , pp. 28-34
    • Reymer, P.W.1    Gagne, E.2    Groenemeyer, B.E.3
  • 16
    • 0030587872 scopus 로고    scopus 로고
    • The Asp9 Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis
    • REGRESS Study Group, Interuniversity Cardiology Institute, Utrecht, The Netherlands. Regression Growth Evaluation Statin Study
    • Jukema JW, van Boven AJ, Groenemeijer B, et al. The Asp9 Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis. REGRESS Study Group, Interuniversity Cardiology Institute, Utrecht, The Netherlands. Regression Growth Evaluation Statin Study. Circulation 1996;94(8):1913-1918.
    • (1996) Circulation , vol.94 , Issue.8 , pp. 1913-1918
    • Jukema, J.W.1    Van Boven, A.J.2    Groenemeijer, B.3
  • 17
    • 0030745465 scopus 로고    scopus 로고
    • Lipoprotein lipase gene variants and risk of coronary disease: A quantitive analysis of population-based studies
    • Hokanson JE. Lipoprotein lipase gene variants and risk of coronary disease: A quantitive analysis of population-based studies. Int J Clin Lab Res 1997;27(1):24-34.
    • (1997) Int J Clin Lab Res , vol.27 , Issue.1 , pp. 24-34
    • Hokanson, J.E.1
  • 18
    • 0030896983 scopus 로고    scopus 로고
    • A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease
    • Wittrup HH, Tybjaerg-Hansen A, Abildgaard S, Steffensen R, Schnohr P, Nordestgaard BG. A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J Clin Invest 1997;99(7):1606-1613.
    • (1997) J Clin Invest , vol.99 , Issue.7 , pp. 1606-1613
    • Wittrup, H.H.1    Tybjaerg-Hansen, A.2    Abildgaard, S.3    Steffensen, R.4    Schnohr, P.5    Nordestgaard, B.G.6
  • 19
    • 0032722471 scopus 로고    scopus 로고
    • Two common mutations (D9N, N291S) in lipoprotein lipase: A cummulative analysis of their influence on plasma lipids and lipoproteins in men and women
    • Kastelein JJP, Ordovas JM, Wittekoek ME, et al. Two common mutations (D9N, N291S) in lipoprotein lipase: A cummulative analysis of their influence on plasma lipids and lipoproteins in men and women. Clin Genet 1999;56:297-305.
    • (1999) Clin Genet , vol.56 , pp. 297-305
    • Kastelein, J.J.P.1    Ordovas, J.M.2    Wittekoek, M.E.3
  • 20
    • 0033016308 scopus 로고    scopus 로고
    • Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atherosclerosis, response to therapy, and future clinical events. Lipoproteins and Coronary Atherosclerosis Study
    • Sing K, Ballantyne CM, Ferlic L, et al. Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atherosclerosis, response to therapy, and future clinical events. Lipoproteins and Coronary Atherosclerosis Study. Atherosclerosis 1999;144(2):435-442.
    • (1999) Atherosclerosis , vol.144 , Issue.2 , pp. 435-442
    • Sing, K.1    Ballantyne, C.M.2    Ferlic, L.3
  • 21
    • 0033536024 scopus 로고    scopus 로고
    • Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease. A meta-analysis
    • Wittrup HH, Tybjaerg-Hansen A, Nordestgaard BG. Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease. A meta-analysis. Circulation 1999;99(22):2901-2907.
    • (1999) Circulation , vol.99 , Issue.22 , pp. 2901-2907
    • Wittrup, H.H.1    Tybjaerg-Hansen, A.2    Nordestgaard, B.G.3
  • 22
    • 0034705084 scopus 로고    scopus 로고
    • A common mutation in lipoprotein lipase confers a 2-fold increase in risk of ischemic cerebrovascular disease in women but not in men
    • Wittrup HH, Nordestgaard BG, Sillesen H, Schnohr P, Tybjaerg-Hansen A. A common mutation in lipoprotein lipase confers a 2-fold increase in risk of ischemic cerebrovascular disease in women but not in men. Circulation 2000;101(20):2393-2397.
    • (2000) Circulation , vol.101 , Issue.20 , pp. 2393-2397
    • Wittrup, H.H.1    Nordestgaard, B.G.2    Sillesen, H.3    Schnohr, P.4    Tybjaerg-Hansen, A.5
  • 23
    • 0034966105 scopus 로고    scopus 로고
    • Lipoprotein lipase D9N, N291S, S447X polymorphisms: Their influence on premature coronary artery disease and plasma levels
    • van Bockxmeer FM, Liu Q, Mamotte C, Burke V, Taylor R. Lipoprotein lipase D9N, N291S, S447X polymorphisms: Their influence on premature coronary artery disease and plasma levels. Atherosclerosis 2001;157:123-129.
    • (2001) Atherosclerosis , vol.157 , pp. 123-129
    • Van Bockxmeer, F.M.1    Liu, Q.2    Mamotte, C.3    Burke, V.4    Taylor, R.5
  • 24
    • 0029046821 scopus 로고
    • The low down on lipoprotein lipase
    • Funke H, Assmann G. The low down on lipoprotein lipase. Nat Genet 1995;10:6-7.
    • (1995) Nat Genet , vol.10 , pp. 6-7
    • Funke, H.1    Assmann, G.2
  • 25
    • 0029808302 scopus 로고    scopus 로고
    • Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
    • Benlian P, De Gennes JL, Foubert L, Zhang H, Gagne SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med 1996;335(12):848-854.
    • (1996) N Engl J Med , vol.335 , Issue.12 , pp. 848-854
    • Benlian, P.1    De Gennes, J.L.2    Foubert, L.3    Zhang, H.4    Gagne, S.E.5    Hayden, M.6
  • 26
    • 0028883699 scopus 로고
    • Lipoprotein lipase gene polymorphisms: Associations with myocardial infarction and lipoprotein levels, the ECTIM study. Etude Cas Temoin sur l'Infarctus du Myocarde
    • Jemaa R, Fumeron F, Poirier O, et al. Lipoprotein lipase gene polymorphisms: Associations with myocardial infarction and lipoprotein levels, the ECTIM study. Etude Cas Temoin sur l'Infarctus du Myocarde. J Lipid Res 1995;36(10):2141-2146.
    • (1995) J Lipid Res , vol.36 , Issue.10 , pp. 2141-2146
    • Jemaa, R.1    Fumeron, F.2    Poirier, O.3
  • 27
    • 0033021054 scopus 로고    scopus 로고
    • Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study
    • Wittrup HH, Tybjaerg-Hansen A, Steffensen R, et al. Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study. Arterioscler Thromb Vasc Biol 1999;19(6):1535-1540.
    • (1999) Arterioscler Thromb Vasc Biol , vol.19 , Issue.6 , pp. 1535-1540
    • Wittrup, H.H.1    Tybjaerg-Hansen, A.2    Steffensen, R.3
  • 28
    • 0033346055 scopus 로고    scopus 로고
    • Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy
    • Heaney AP, Sharer N, Rameh B, Braganza JM, Durrington PN. Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. J Clin Endocrinol Metab 1999;84(4):1203-1205.
    • (1999) J Clin Endocrinol Metab , vol.84 , Issue.4 , pp. 1203-1205
    • Heaney, A.P.1    Sharer, N.2    Rameh, B.3    Braganza, J.M.4    Durrington, P.N.5
  • 29
    • 0035042012 scopus 로고    scopus 로고
    • Gene therapy for hemophilia B: AAV-mediated transfer of the gene for coagulation factor IX to human muscle
    • Larson PJ, High KA. Gene therapy for hemophilia B: AAV-mediated transfer of the gene for coagulation factor IX to human muscle. Adv Exp Med Biol 2001;489:45-57
    • (2001) Adv Exp Med Biol , vol.489 , pp. 45-57
    • Larson, P.J.1    High, K.A.2
  • 30
    • 0034050904 scopus 로고    scopus 로고
    • Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector
    • Kay MA, Manno CS, Ragni MV, et al. Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector. Nat Genet 2000;24(3):257-261.
    • (2000) Nat Genet , vol.24 , Issue.3 , pp. 257-261
    • Kay, M.A.1    Manno, C.S.2    Ragni, M.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.