메뉴 건너뛰기




Volumn 24, Issue 2, 2003, Pages 339-343

Screening of two mutations at exon 3 of the apolipoprotein E gene (sites 28 and 42) in a sample of patients with sporadic late-onset Alzheimer's disease

Author keywords

Alzheimer's disease; APOE; Apolipoprotein E; Rare variants

Indexed keywords

ALANINE; APOLIPOPROTEIN E; LEUCINE; PROLINE; THREONINE;

EID: 0037333645     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0197-4580(02)00089-1     Document Type: Article
Times cited : (10)

References (16)
  • 2
    • 0029060406 scopus 로고
    • Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations
    • Corbo R.M., Scacchi R., Mureddu L., Mulas G., Alfano G. Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations. Ann. Hum. Genet. 59:1995;197-209.
    • (1995) Ann. Hum. Genet. , vol.59 , pp. 197-209
    • Corbo, R.M.1    Scacchi, R.2    Mureddu, L.3    Mulas, G.4    Alfano, G.5
  • 3
    • 0027987314 scopus 로고
    • Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein level
    • de Knijff P., van den Maagdenberg A.M., Frants R.R., Havekes L.M. Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein level. Hum. Mutat. 4:1994;178-194.
    • (1994) Hum. Mutat. , vol.4 , pp. 178-194
    • De Knijff, P.1    Van den Maagdenberg, A.M.2    Frants, R.R.3    Havekes, L.M.4
  • 4
    • 0033605611 scopus 로고    scopus 로고
    • A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease
    • Kamboh M.I., Aston C.E., Perez-Tur J., Kokmen E., Ferrell R.E., Hardy J.et al. A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease. Neurosci. Lett. 263:1999;129-132.
    • (1999) Neurosci. Lett. , vol.263 , pp. 129-132
    • Kamboh, M.I.1    Aston, C.E.2    Perez-Tur, J.3    Kokmen, E.4    Ferrell, R.E.5    Hardy, J.6
  • 5
    • 0024299370 scopus 로고
    • Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology
    • Mahley R.W. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science. 240:1988;622-630.
    • (1988) Science , vol.240 , pp. 622-630
    • Mahley, R.W.1
  • 6
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease
    • McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease. Neurology. 34:1984;939-944.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3    Katzman, R.4    Price, D.5    Stadlan, E.M.6
  • 7
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic. Acids Res. 16:1988;1215.
    • (1988) Nucleic. Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 9
    • 0032912218 scopus 로고    scopus 로고
    • Effects of a frequent apolipoprotein E isoform, ApoE4Freiburg (Leu28 → Pro), on lipoproteins and the prevalence of coronary artery disease in whites
    • Orth M., Weng W., Funke H., Steinmetz A., Assmann G., Nauck M.et al. Effects of a frequent apolipoprotein E isoform, ApoE4Freiburg (Leu28 → Pro), on lipoproteins and the prevalence of coronary artery disease in whites. Arterioscler. Thromb. Vasc. Biol. 19:1999;1306-1315.
    • (1999) Arterioscler. Thromb. Vasc. Biol. , vol.19 , pp. 1306-1315
    • Orth, M.1    Weng, W.2    Funke, H.3    Steinmetz, A.4    Assmann, G.5    Nauck, M.6
  • 11
    • 0027485290 scopus 로고
    • Characterization of the gene for apolipoprotein E5-Frankfurt (Gln81 → Lys, Cys112 → Arg) by polymerase chain reaction, restriction isotyping, and temperature gradient gel electrophoresis
    • Ruzicka V., Marz W., Russ A., Fisher E., Mondorf W., Gross W. Characterization of the gene for apolipoprotein E5-Frankfurt (Gln81 → Lys, Cys112 → Arg) by polymerase chain reaction, restriction isotyping, and temperature gradient gel electrophoresis. Electrophoresis. 14:1993;1032-1037.
    • (1993) Electrophoresis , vol.14 , pp. 1032-1037
    • Ruzicka, V.1    Marz, W.2    Russ, A.3    Fisher, E.4    Mondorf, W.5    Gross, W.6
  • 12
    • 0033521639 scopus 로고    scopus 로고
    • Plasma levels of apolipoprotein E and genetic markers in elderly patients with Alzheimer's disease
    • Scacchi R., Gambina G., Ruggeri M., Martini M.C., Ferrari G., Silvestri M.et al. Plasma levels of apolipoprotein E and genetic markers in elderly patients with Alzheimer's disease. Neurosci. Lett. 259:1999;33-36.
    • (1999) Neurosci. Lett. , vol.259 , pp. 33-36
    • Scacchi, R.1    Gambina, G.2    Ruggeri, M.3    Martini, M.C.4    Ferrari, G.5    Silvestri, M.6
  • 13
    • 0027407565 scopus 로고
    • Apolipoprotein E: High-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease
    • Strittmatter W.J., Saunders A.M., Schmechel D., Pericak-Vance M., Enghild J., Salvesen G.S.et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc. Natl. Acad. Sci. U.S.A. 90:1993;1977-1981.
    • (1993) Proc. Natl. Acad. Sci. U.S.A. , vol.90 , pp. 1977-1981
    • Strittmatter, W.J.1    Saunders, A.M.2    Schmechel, D.3    Pericak-Vance, M.4    Enghild, J.5    Salvesen, G.S.6
  • 14
    • 0017773790 scopus 로고
    • Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinaemia in man
    • Utermann G., Hees M., Steinmetz A. Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinaemia in man. Nature. 269:1977;604-607.
    • (1977) Nature , vol.269 , pp. 604-607
    • Utermann, G.1    Hees, M.2    Steinmetz, A.3
  • 15
    • 0027524456 scopus 로고
    • Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: No cosegregation with severe hyperlipidemia
    • van den Maagdenberg A.M., Weng W., de Bruijn I.H., de Knijff P., Funke H., Smelt A.H.et al. Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia. Am. J. Hum. Genet. 52:1993;937-946.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 937-946
    • Van den Maagdenberg, A.M.1    Weng, W.2    De Bruijn, I.H.3    De Knijff, P.4    Funke, H.5    Smelt, A.H.6
  • 16
    • 0025801744 scopus 로고
    • Apolipoprotein E genotyping by one-stage PCR
    • Wenham P.R., Price W.H., Blandell G. Apolipoprotein E genotyping by one-stage PCR. Lancet. 337:1991;1158-1159.
    • (1991) Lancet , vol.337 , pp. 1158-1159
    • Wenham, P.R.1    Price, W.H.2    Blandell, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.