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Volumn 386, Issue 1-2, 2007, Pages 100-104

A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis

Author keywords

Atherosclerosis; Chylomicronemia; Lipoprotein lipase deficiency; Mechanical multidetector row computer tomography; Point mutation

Indexed keywords

LIPOPROTEIN LIPASE;

EID: 34548734089     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.08.011     Document Type: Article
Times cited : (21)

References (26)
  • 1
    • 0002316655 scopus 로고    scopus 로고
    • Familial lipoprotein lipase deficiency, apo C-II deficiency, and hepatic lipase deficiency
    • Scriver C., Beaudet A., Sly W., and Valle D. (Eds), McGraw-Hill, New York
    • Brunzell J., and Deeb S. Familial lipoprotein lipase deficiency, apo C-II deficiency, and hepatic lipase deficiency. In: Scriver C., Beaudet A., Sly W., and Valle D. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 2789-2816
    • (2001) The metabolic and molecular bases of inherited disease , pp. 2789-2816
    • Brunzell, J.1    Deeb, S.2
  • 2
    • 0036906508 scopus 로고    scopus 로고
    • Lipoprotein lipase: genetics, lipid uptake, and regulation
    • Merkel M., Eckel R.H., and Goldberg I.J. Lipoprotein lipase: genetics, lipid uptake, and regulation. J Lipid Res 43 (2002) 1997-2006
    • (2002) J Lipid Res , vol.43 , pp. 1997-2006
    • Merkel, M.1    Eckel, R.H.2    Goldberg, I.J.3
  • 4
    • 33744546889 scopus 로고    scopus 로고
    • Localized vessel expression of lipoprotein lipase in rabbits leads to rapid lipid deposition in the balloon-injured arterial wall
    • Wu X., Wang J., Fan J., et al. Localized vessel expression of lipoprotein lipase in rabbits leads to rapid lipid deposition in the balloon-injured arterial wall. Atherosclerosis 187 (2006) 65-73
    • (2006) Atherosclerosis , vol.187 , pp. 65-73
    • Wu, X.1    Wang, J.2    Fan, J.3
  • 5
    • 0032847139 scopus 로고    scopus 로고
    • Overexpressed lipoprotein lipase protects against atherosclerosis in apolipoprotein E knockout mice
    • Yagyu H., Ishibashi S., Chen Z., et al. Overexpressed lipoprotein lipase protects against atherosclerosis in apolipoprotein E knockout mice. J Lipid Res 40 (1999) 1677-1685
    • (1999) J Lipid Res , vol.40 , pp. 1677-1685
    • Yagyu, H.1    Ishibashi, S.2    Chen, Z.3
  • 6
    • 0030911585 scopus 로고    scopus 로고
    • Chylomicronemia due to apolipoprotein CIII overexpression in apolipoprotein E-null mice. Apolipoprotein CIII-induced hypertriglyceridemia is not mediated by effects on apolipoprotein E
    • Ebara T., Ramakrishnan R., Steiner G., and Shachter N.S. Chylomicronemia due to apolipoprotein CIII overexpression in apolipoprotein E-null mice. Apolipoprotein CIII-induced hypertriglyceridemia is not mediated by effects on apolipoprotein E. J Clin Invest 99 (1997) 2672-2681
    • (1997) J Clin Invest , vol.99 , pp. 2672-2681
    • Ebara, T.1    Ramakrishnan, R.2    Steiner, G.3    Shachter, N.S.4
  • 7
    • 0029808302 scopus 로고    scopus 로고
    • Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
    • Benlian P., De Gennes J.L., Foubert L., Zhang H., Gagne S.E., and Hayden M. 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
  • 8
    • 0035194256 scopus 로고    scopus 로고
    • No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61→stop) in the lipoprotein lipase gene
    • Ebara T., Okubo M., Horinishi A., Adachi M., Murase T., and Hirano T. No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61→stop) in the lipoprotein lipase gene. Atherosclerosis 159 (2001) 375-379
    • (2001) Atherosclerosis , vol.159 , pp. 375-379
    • Ebara, T.1    Okubo, M.2    Horinishi, A.3    Adachi, M.4    Murase, T.5    Hirano, T.6
  • 9
    • 0031975895 scopus 로고    scopus 로고
    • Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia
    • Foubert L., De Gennes J.L., Benlian P., Truffert J., Miao L., and Hayden M.R. Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia. Hum Mutat Suppl 1 (1998) S141-S144
    • (1998) Hum Mutat , vol.SUPPL. 1
    • Foubert, L.1    De Gennes, J.L.2    Benlian, P.3    Truffert, J.4    Miao, L.5    Hayden, M.R.6
  • 10
    • 0037126526 scopus 로고    scopus 로고
    • Third report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report
    • Third report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report. Circulation 106 (2002) 3143-3421
    • (2002) Circulation , vol.106 , pp. 3143-3421
  • 11
    • 0034037330 scopus 로고    scopus 로고
    • Reactions of direct LDL-cholesterol assays with pure LDL fraction and IDL: comparison of three homogeneous methods
    • Sakaue T., Hirano T., Yoshino G., Sakai K., Takeuchi H., and Adachi M. Reactions of direct LDL-cholesterol assays with pure LDL fraction and IDL: comparison of three homogeneous methods. Clin Chim Acta 295 (2000) 97-106
    • (2000) Clin Chim Acta , vol.295 , pp. 97-106
    • Sakaue, T.1    Hirano, T.2    Yoshino, G.3    Sakai, K.4    Takeuchi, H.5    Adachi, M.6
  • 12
    • 0018838290 scopus 로고
    • Decline of postheparin plasma lipoprotein lipase in acromegalic patients
    • Murase T., Yamada N., Ohsawa N., Kosaka K., Morita S., and Yoshida S. Decline of postheparin plasma lipoprotein lipase in acromegalic patients. Metabolism 29 (1980) 666-672
    • (1980) Metabolism , vol.29 , pp. 666-672
    • Murase, T.1    Yamada, N.2    Ohsawa, N.3    Kosaka, K.4    Morita, S.5    Yoshida, S.6
  • 13
    • 0032976788 scopus 로고    scopus 로고
    • Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients
    • Okubo M., Inoue S., Horinishi A., et al. Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients. Atherosclerosis 144 (1999) 443-447
    • (1999) Atherosclerosis , vol.144 , pp. 443-447
    • Okubo, M.1    Inoue, S.2    Horinishi, A.3
  • 14
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I
    • Hixon J.E., and Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I. J Lipid Res 31 (1990) 545-548
    • (1990) J Lipid Res , vol.31 , pp. 545-548
    • Hixon, J.E.1    Vernier, D.T.2
  • 15
    • 0026518064 scopus 로고
    • Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec
    • Bergeron J., Normand T., Bharucha A., et al. Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec. Clin Genet 41 (1992) 206-210
    • (1992) Clin Genet , vol.41 , pp. 206-210
    • Bergeron, J.1    Normand, T.2    Bharucha, A.3
  • 16
    • 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 exons 5 and 6
    • Gilbert B., Rouis M., Griglio S., de Lumley L., and Laplaud P. 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 exons 5 and 6. Ann Genet 44 (2001) 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.5
  • 17
    • 0032806801 scopus 로고    scopus 로고
    • Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese
    • Takagi A., Ikeda Y., Tachi K., Shinozuka T., and Yamamoto A. Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese. Clin Chim Acta 285 (1999) 143-154
    • (1999) Clin Chim Acta , vol.285 , pp. 143-154
    • Takagi, A.1    Ikeda, Y.2    Tachi, K.3    Shinozuka, T.4    Yamamoto, A.5
  • 18
    • 0034577331 scopus 로고    scopus 로고
    • A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide
    • Yoshida T., Gotoda T., Okubo M., et al. A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide. J Atheroscler Thromb 7 (2000) 45-49
    • (2000) J Atheroscler Thromb , vol.7 , pp. 45-49
    • Yoshida, T.1    Gotoda, T.2    Okubo, M.3
  • 19
    • 0025053164 scopus 로고
    • A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries
    • Monsalve M.V., Henderson H., Roederer G., et al. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest 86 (1990) 728-734
    • (1990) J Clin Invest , vol.86 , pp. 728-734
    • Monsalve, M.V.1    Henderson, H.2    Roederer, G.3
  • 20
    • 0025239015 scopus 로고
    • Missense mutation (Gly-Glu188) of human lipoprotein lipase imparting functional deficiency
    • Emi M., Wilson D.E., Iverius P.H., et al. Missense mutation (Gly-Glu188) of human lipoprotein lipase imparting functional deficiency. J Biol Chem 265 (1990) 5910-5916
    • (1990) J Biol Chem , vol.265 , pp. 5910-5916
    • Emi, M.1    Wilson, D.E.2    Iverius, P.H.3
  • 21
    • 0026733335 scopus 로고
    • Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization
    • Hata A., Ridinger D.N., Sutherland S.D., et al. Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. J Biol Chem 267 (1992) 20132-20139
    • (1992) J Biol Chem , vol.267 , pp. 20132-20139
    • Hata, A.1    Ridinger, D.N.2    Sutherland, S.D.3
  • 22
    • 0036208674 scopus 로고    scopus 로고
    • Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene
    • Peterson J., Ayyobi A.F., Ma Y., et al. Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene. J Lipid Res 43 (2002) 398-406
    • (2002) J Lipid Res , vol.43 , pp. 398-406
    • Peterson, J.1    Ayyobi, A.F.2    Ma, Y.3
  • 23
    • 0020593639 scopus 로고
    • Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man
    • Hoeg J.M., Osborne Jr. J.C., Gregg R.E., and Brewer Jr. H.B. Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. Am J Med 75 (1983) 889-892
    • (1983) Am J Med , vol.75 , pp. 889-892
    • Hoeg, J.M.1    Osborne Jr., J.C.2    Gregg, R.E.3    Brewer Jr., H.B.4
  • 24
    • 12444316058 scopus 로고    scopus 로고
    • Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis
    • Saika Y., Sakai N., Takahashi M., 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
  • 25
    • 28744454601 scopus 로고    scopus 로고
    • Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis
    • Kawashiri M.A., Higashikata T., Mizuno M., et al. Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. J Clin Endocrinol Metab 90 (2005) 6541-6544
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 6541-6544
    • Kawashiri, M.A.1    Higashikata, T.2    Mizuno, M.3
  • 26
    • 0027193327 scopus 로고
    • Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency
    • Zambon A., Torres A., Bijvoet S., et al. Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency. Lancet 341 (1993) 1119-1121
    • (1993) Lancet , vol.341 , pp. 1119-1121
    • Zambon, A.1    Torres, A.2    Bijvoet, S.3


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