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Volumn 8, Issue 3, 2014, Pages 287-295

Genotype-phenotype relationships in patients with type i hyperlipoproteinemia

Author keywords

Apolipoprotein A5; Familial chylomicronemia syndrome; GPIHBP1; Keywords; Lipoprotein lipase; Type 1 hyperlipoproteinemia

Indexed keywords

APOLIPOPROTEIN A5; APOLIPOPROTEIN C2; FENOFIBRATE; FENOFIBRIC ACID; FISH OIL; GEMFIBROZIL; GLYCOSYL PHOSPHATIDYLINOSITOL ANCHORED HIGH DENSITY LIPOPROTEIN BINDING PROTEIN 1; HEMOGLOBIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HIGH DENSITY LIPOPROTEIN RECEPTOR; INSULIN; LEVOTHYROXINE; LIPOPROTEIN LIPASE; NICOTINIC ACID; OMEGA 3 ACID ETHYL ESTER; ORAL CONTRACEPTIVE AGENT; SIMVASTATIN; TETRAHYDROLIPSTATIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; APOA5 PROTEIN, HUMAN; APOLIPOPROTEIN A; GPIHBP1 PROTEIN, HUMAN; LIPOPROTEIN RECEPTOR; LMF1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

EID: 84899719084     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2014.02.006     Document Type: Article
Times cited : (55)

References (44)
  • 1
    • 34548433987 scopus 로고    scopus 로고
    • Clinical practice. Hypertriglyceridemia
    • J.D. Brunzell Clinical practice. Hypertriglyceridemia N Engl J Med 357 2007 1009 1017
    • (2007) N Engl J Med , vol.357 , pp. 1009-1017
    • Brunzell, J.D.1
  • 3
    • 33749170457 scopus 로고    scopus 로고
    • Practice guidelines in acute pancreatitis
    • P.A. Banks, and M.L. Freeman Practice guidelines in acute pancreatitis Am J Gastroenterol 101 2006 2379 2400
    • (2006) Am J Gastroenterol , vol.101 , pp. 2379-2400
    • Banks, P.A.1    Freeman, M.L.2
  • 5
    • 0019804407 scopus 로고
    • Binding of lipoprotein lipase to endothelial cells in culture
    • C.F. Cheng, G.M. Oosta, A. Bensadoun, and R.D. Rosenberg Binding of lipoprotein lipase to endothelial cells in culture J Biol Chem 256 1981 12893 12898
    • (1981) J Biol Chem , vol.256 , pp. 12893-12898
    • Cheng, C.F.1    Oosta, G.M.2    Bensadoun, A.3    Rosenberg, R.D.4
  • 6
    • 0002316655 scopus 로고    scopus 로고
    • Familial lipoprotein lipase deficiency, Apo C-II deficiency, and hepatic lipase deficiency
    • C.R. Scriver, B.L. Beaudet, W.S. Sly, D. Valle, The McGraw-Hill Companies New York
    • J.D. Brunzell, and S.S. Deeb Familial lipoprotein lipase deficiency, Apo C-II deficiency, and hepatic lipase deficiency C.R. Scriver, B.L. Beaudet, W.S. Sly, D. Valle, The Metabolic and Molecular Bases of Inherited Disease 2006 The McGraw-Hill Companies New York
    • (2006) The Metabolic and Molecular Bases of Inherited Disease
    • Brunzell, J.D.1    Deeb, S.S.2
  • 7
    • 36549038120 scopus 로고    scopus 로고
    • Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia
    • M. Peterfy, O. Ben-Zeev, and H.Z. Mao et al. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia Nat Genet 39 2007 1483 1487
    • (2007) Nat Genet , vol.39 , pp. 1483-1487
    • Peterfy, M.1    Ben-Zeev, O.2    Mao, H.Z.3
  • 8
    • 35448983964 scopus 로고    scopus 로고
    • Homozygous missense mutation (G56R) in glycosylphosphatidylinositol- anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)
    • J. Wang, and R.A. Hegele Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650) Lipids Health Dis 6 2007 23
    • (2007) Lipids Health Dis , vol.6 , pp. 23
    • Wang, J.1    Hegele, R.A.2
  • 9
    • 66349088552 scopus 로고    scopus 로고
    • Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase
    • A.P. Beigneux, R. Franssen, and A. Bensadoun et al. Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase Arterioscler Thromb Vasc Biol 29 2009 956 962
    • (2009) Arterioscler Thromb Vasc Biol , vol.29 , pp. 956-962
    • Beigneux, A.P.1    Franssen, R.2    Bensadoun, A.3
  • 10
    • 40349113281 scopus 로고    scopus 로고
    • Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene
    • C. Priore Oliva, F. Carubbi, F.G. Schaap, S. Bertolini, and S. Calandra Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene J Intern Med 263 2008 450 458
    • (2008) J Intern Med , vol.263 , pp. 450-458
    • Priore Oliva, C.1    Carubbi, F.2    Schaap, F.G.3    Bertolini, S.4    Calandra, S.5
  • 11
    • 26444617632 scopus 로고    scopus 로고
    • Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment
    • C. Marcais, B. Verges, and S. Charriere et al. Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment J Clin Invest 115 2005 2862 2869
    • (2005) J Clin Invest , vol.115 , pp. 2862-2869
    • Marcais, C.1    Verges, B.2    Charriere, S.3
  • 12
    • 19944431083 scopus 로고    scopus 로고
    • Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia
    • C. Priore Oliva, L. Pisciotta, and G. Li Volti et al. Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia Arterioscler Thromb Vasc Biol 25 2005 411 417
    • (2005) Arterioscler Thromb Vasc Biol , vol.25 , pp. 411-417
    • Priore Oliva, C.1    Pisciotta, L.2    Li Volti, G.3
  • 13
    • 33746576463 scopus 로고    scopus 로고
    • A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia
    • C. Priore Oliva, P. Tarugi, and S. Calandra et al. A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia Atherosclerosis 188 2006 215 217
    • (2006) Atherosclerosis , vol.188 , pp. 215-217
    • Priore Oliva, C.1    Tarugi, P.2    Calandra, S.3
  • 14
    • 84859159989 scopus 로고    scopus 로고
    • Lipase maturation factor 1: A lipase chaperone involved in lipid metabolism
    • M. Peterfy Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism Biochim Biophys Acta 1821 2012 790 794
    • (2012) Biochim Biophys Acta , vol.1821 , pp. 790-794
    • Peterfy, M.1
  • 15
    • 77956628122 scopus 로고    scopus 로고
    • GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries
    • B.S. Davies, A.P. Beigneux, and R.H. Barnes 2nd et al. GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries Cell Metab 12 2010 42 52
    • (2010) Cell Metab , vol.12 , pp. 42-52
    • Davies, B.S.1    Beigneux, A.P.2    Barnes II, R.H.3
  • 16
    • 33947573537 scopus 로고    scopus 로고
    • Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons
    • A.P. Beigneux, B.S. Davies, and P. Gin et al. Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons Cell Metab 5 2007 279 291
    • (2007) Cell Metab , vol.5 , pp. 279-291
    • Beigneux, A.P.1    Davies, B.S.2    Gin, P.3
  • 18
    • 0022551935 scopus 로고
    • Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients
    • G. Baggio, E. Manzato, and C. Gabelli et al. Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients J Clin Invest 77 1986 520 527
    • (1986) J Clin Invest , vol.77 , pp. 520-527
    • Baggio, G.1    Manzato, E.2    Gabelli, C.3
  • 19
    • 0026528213 scopus 로고
    • Apolipoprotein C-II deficiency syndrome due to apo C-IIHamburg: Clinical and biochemical features and HphI restriction enzyme polymorphism
    • F.U. Beil, S.S. Fojo, H.B. Brewer Jr., H. Greten, and U. Beisiegel Apolipoprotein C-II deficiency syndrome due to apo C-IIHamburg: clinical and biochemical features and HphI restriction enzyme polymorphism Eur J Clin Invest 22 1992 88 95
    • (1992) Eur J Clin Invest , vol.22 , pp. 88-95
    • Beil, F.U.1    Fojo, S.S.2    Brewer, Jr.H.B.3    Greten, H.4    Beisiegel, U.5
  • 20
    • 0020045920 scopus 로고
    • Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency
    • W.C. Breckenridge, P. Alaupovic, D.W. Cox, and J.A. Little Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency Atherosclerosis 44 1982 223 235
    • (1982) Atherosclerosis , vol.44 , pp. 223-235
    • Breckenridge, W.C.1    Alaupovic, P.2    Cox, D.W.3    Little, J.A.4
  • 21
    • 0017888564 scopus 로고
    • Hypertriglyceridemia associated with deficiency of apolipoprotein C-II
    • W.C. Breckenridge, J.A. Little, G. Steiner, A. Chow, and M. Poapst Hypertriglyceridemia associated with deficiency of apolipoprotein C-II N Engl J Med 298 1978 1265 1273
    • (1978) N Engl J Med , vol.298 , pp. 1265-1273
    • Breckenridge, W.C.1    Little, J.A.2    Steiner, G.3    Chow, A.4    Poapst, M.5
  • 22
    • 0018253968 scopus 로고
    • Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis
    • D.W. Cox, W.C. Breckenridge, and J.A. Little Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis N Engl J Med 299 1978 1421 1424
    • (1978) N Engl J Med , vol.299 , pp. 1421-1424
    • Cox, D.W.1    Breckenridge, W.C.2    Little, J.A.3
  • 23
    • 0021016708 scopus 로고
    • Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives
    • R. Fellin, G. Baggio, and A. Poli et al. Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives Atherosclerosis 49 1983 55 68
    • (1983) Atherosclerosis , vol.49 , pp. 55-68
    • Fellin, R.1    Baggio, G.2    Poli, A.3
  • 24
    • 0023740411 scopus 로고
    • Apolipoprotein C-II deficiency: Identification of a structural variant ApoC-II Padova
    • S.S. Fojo, G. Baggio, and C. Gabelli et al. Apolipoprotein C-II deficiency: identification of a structural variant ApoC-II Padova Biochem Biophys Res Commun 154 1988 73 79
    • (1988) Biochem Biophys Res Commun , vol.154 , pp. 73-79
    • Fojo, S.S.1    Baggio, G.2    Gabelli, C.3
  • 25
    • 0024797896 scopus 로고
    • An initiation codon mutation in the apoC-II gene (apoC-II Paris) of a patient with a deficiency of apolipoprotein C-II
    • S.S. Fojo, J.L. de Gennes, and J. Chapman et al. An initiation codon mutation in the apoC-II gene (apoC-II Paris) of a patient with a deficiency of apolipoprotein C-II J Biol Chem 264 1989 20839 20842
    • (1989) J Biol Chem , vol.264 , pp. 20839-20842
    • Fojo, S.S.1    De Gennes, J.L.2    Chapman, J.3
  • 26
    • 0024434201 scopus 로고
    • A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency
    • S.S. Fojo, P. Lohse, and C. Parrott et al. A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency J Clin Invest 84 1989 1215 1219
    • (1989) J Clin Invest , vol.84 , pp. 1215-1219
    • Fojo, S.S.1    Lohse, P.2    Parrott, C.3
  • 27
    • 0024266297 scopus 로고
    • A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II
    • S.S. Fojo, A.F. Stalenhoef, K. Marr, R.E. Gregg, R.S. Ross, and H.B. Brewer 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 263 1988 17913 17916
    • (1988) J Biol Chem , vol.263 , pp. 17913-17916
    • Fojo, S.S.1    Stalenhoef, A.F.2    Marr, K.3    Gregg, R.E.4    Ross, R.S.5    Brewer, Jr.H.B.6
  • 28
    • 0036019538 scopus 로고    scopus 로고
    • A case of apolipoprotein C-II deficiency with coronary artery disease
    • M. Kawano, K. Kodama, and H. Inadera et al. A case of apolipoprotein C-II deficiency with coronary artery disease Clin Exp Med 2 2002 29 31
    • (2002) Clin Exp Med , vol.2 , pp. 29-31
    • Kawano, M.1    Kodama, K.2    Inadera, H.3
  • 29
    • 0024599585 scopus 로고
    • A neonatal case of apolipoprotein C-II deficiency
    • M. Ohno, S. Ishibashi, and K. Nakao et al. A neonatal case of apolipoprotein C-II deficiency Eur J Pediatr 148 1989 550 552
    • (1989) Eur J Pediatr , vol.148 , pp. 550-552
    • Ohno, M.1    Ishibashi, S.2    Nakao, K.3
  • 30
    • 0030931322 scopus 로고    scopus 로고
    • A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient
    • M. Okubo, Y. Hasegawa, Y. Aoyama, and T. Murase A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient Atherosclerosis 130 1997 153 160
    • (1997) Atherosclerosis , vol.130 , pp. 153-160
    • Okubo, M.1    Hasegawa, Y.2    Aoyama, Y.3    Murase, T.4
  • 31
    • 84878410932 scopus 로고    scopus 로고
    • Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene
    • S. Takase, J. Osuga, and H. Fujita et al. Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene J Atheroscler Thromb 20 2013 481 493
    • (2013) J Atheroscler Thromb , vol.20 , pp. 481-493
    • Takase, S.1    Osuga, J.2    Fujita, H.3
  • 32
    • 0038443025 scopus 로고    scopus 로고
    • Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy
    • C.J. Wilson, C. Priore Oliva, F. Maggi, A.L. Catapano, and S. Calandra Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy Ann Neurol 53 2003 807 810
    • (2003) Ann Neurol , vol.53 , pp. 807-810
    • Wilson, C.J.1    Priore Oliva, C.2    Maggi, F.3    Catapano, A.L.4    Calandra, S.5
  • 33
    • 0018671804 scopus 로고
    • Familial type i hyperlipoproteinemia caused by apolipoprotein C-II deficiency
    • T. Yamamura, H. Sudo, K. Ishikawa, and A. Yamamoto Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency Atherosclerosis 34 1979 53 65
    • (1979) Atherosclerosis , vol.34 , pp. 53-65
    • Yamamura, T.1    Sudo, H.2    Ishikawa, K.3    Yamamoto, A.4
  • 34
    • 84863314842 scopus 로고    scopus 로고
    • Deletion of GPIHBP1 causing severe chylomicronemia
    • J.J. Rios, S. Shastry, and J. Jasso et al. Deletion of GPIHBP1 causing severe chylomicronemia J Inherit Metab Dis 35 2012 531 540
    • (2012) J Inherit Metab Dis , vol.35 , pp. 531-540
    • Rios, J.J.1    Shastry, S.2    Jasso, J.3
  • 35
    • 70449116131 scopus 로고    scopus 로고
    • Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
    • A.B. Cefalu, D. Noto, and M.L. Arpi et al. Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia J Clin Endocrinol Metab 94 2009 4584 4590
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 4584-4590
    • Cefalu, A.B.1    Noto, D.2    Arpi, M.L.3
  • 36
    • 0024383955 scopus 로고
    • Detection and characterization of the heterozygote state for lipoprotein lipase deficiency
    • S.P. Babirak, P.H. Iverius, W.Y. Fujimoto, and J.D. Brunzell Detection and characterization of the heterozygote state for lipoprotein lipase deficiency Arteriosclerosis 9 1989 326 334
    • (1989) Arteriosclerosis , vol.9 , pp. 326-334
    • Babirak, S.P.1    Iverius, P.H.2    Fujimoto, W.Y.3    Brunzell, J.D.4
  • 37
    • 0031718707 scopus 로고    scopus 로고
    • Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study
    • J.C. Feoli-Fonseca, E. Levy, M. Godard, and M. Lambert Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study J Pediatr 133 1998 417 423
    • (1998) J Pediatr , vol.133 , pp. 417-423
    • Feoli-Fonseca, J.C.1    Levy, E.2    Godard, M.3    Lambert, M.4
  • 38
    • 0029808302 scopus 로고    scopus 로고
    • Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
    • P. Benlian, J.L. De Gennes, L. Foubert, H. Zhang, S.E. Gagne, and M. Hayden Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene N Engl J Med 335 1996 848 854
    • (1996) N Engl J Med , vol.335 , pp. 848-854
    • Benlian, P.1    De Gennes, J.L.2    Foubert, L.3    Zhang, H.4    Gagne, S.E.5    Hayden, M.6
  • 39
    • 12444316058 scopus 로고    scopus 로고
    • Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis
    • Y. Saika, N. Sakai, and M. Takahashi et al. Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis Eur J Clin Invest 33 2003 216 222
    • (2003) Eur J Clin Invest , vol.33 , pp. 216-222
    • Saika, Y.1    Sakai, N.2    Takahashi, M.3
  • 40
    • 84886711197 scopus 로고    scopus 로고
    • Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD
    • H. Yamamoto, M. Onishi, and N. Miyamoto et al. Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD J Atheroscler Thromb 20 2013 777 784
    • (2013) J Atheroscler Thromb , vol.20 , pp. 777-784
    • Yamamoto, H.1    Onishi, M.2    Miyamoto, N.3
  • 41
    • 58049211382 scopus 로고    scopus 로고
    • Abnormal patterns of lipoprotein lipase release into the plasma in GPIHBP1-deficient mice
    • M.M. Weinstein, L. Yin, and A.P. Beigneux et al. Abnormal patterns of lipoprotein lipase release into the plasma in GPIHBP1-deficient mice J Biol Chem 283 2008 34511 34518
    • (2008) J Biol Chem , vol.283 , pp. 34511-34518
    • Weinstein, M.M.1    Yin, L.2    Beigneux, A.P.3
  • 42
    • 77952575107 scopus 로고    scopus 로고
    • Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects
    • R. Franssen, S.G. Young, and F. Peelman et al. Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects Circ Cardiovasc Genet 3 2010 169 178
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 169-178
    • Franssen, R.1    Young, S.G.2    Peelman, F.3
  • 43
    • 77952679453 scopus 로고    scopus 로고
    • Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia
    • G. Olivecrona, E. Ehrenborg, and H. Semb et al. Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia J Lipid Res 51 2010 1535 1545
    • (2010) J Lipid Res , vol.51 , pp. 1535-1545
    • Olivecrona, G.1    Ehrenborg, E.2    Semb, H.3
  • 44
    • 84875962928 scopus 로고    scopus 로고
    • Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPL(S447X)) gene therapy for lipoprotein lipase deficiency: An open-label trial
    • D. Gaudet, J. Methot, and S. Dery et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPL(S447X)) gene therapy for lipoprotein lipase deficiency: an open-label trial Gene Ther 20 2013 361 369
    • (2013) Gene Ther , vol.20 , pp. 361-369
    • Gaudet, D.1    Methot, J.2    Dery, S.3


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