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Volumn 42, Issue 5, 2006, Pages 302-305

Genes in Alzheimer's disease;Genes de la enfermedad de Alzheimer

Author keywords

Alzheimer; Amyloid precursor protein peptide; APOE; Genetics; Presenilin 2

Indexed keywords

AMYLOID PROTEIN; PRESENILIN 1; PRESENILIN 2; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; APOLIPOPROTEIN E4; MEMBRANE PROTEIN; PSEN1 PROTEIN, HUMAN; PSEN2 PROTEIN, HUMAN;

EID: 33749168030     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4205.2005486     Document Type: Review
Times cited : (32)

References (30)
  • 1
    • 0033358671 scopus 로고    scopus 로고
    • Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
    • Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999; 65: 664-70.
    • (1999) Am J Hum Genet , vol.65 , pp. 664-670
    • Campion, D.1    Dumanchin, C.2    Hannequin, D.3    Dubois, B.4    Belliard, S.5    Puel, M.6
  • 4
    • 0025179972 scopus 로고
    • Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. FAD Collaborative Study Group
    • St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. FAD Collaborative Study Group. Nature 1990; 347: 194-7.
    • (1990) Nature , vol.347 , pp. 194-197
    • St George-Hyslop, P.H.1    Haines, J.L.2    Farrer, L.A.3    Polinsky, R.4    Van Broeckhoven, C.5    Goate, A.6
  • 5
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349: 704-6.
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.C.2    Mullan, M.3    Brown, J.4    Crawford, F.5    Fidani, L.6
  • 6
    • 0032150877 scopus 로고    scopus 로고
    • Genetic dissection of Alzheimer's disease and related dementias: Amyloid and its relationship to tau
    • Hardy J, Duff K, Hardy KG, Pérez-Tur, J, Hutton M. Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nat Neurosci 1998; 1: 355-86.
    • (1998) Nat Neurosci , vol.1 , pp. 355-386
    • Hardy, J.1    Duff, K.2    Hardy, K.G.3    Pérez-Tur, J.4    Hutton, M.5
  • 7
    • 0034966403 scopus 로고    scopus 로고
    • Closing in on the amyloid cascade: Recent insights into the cell biology of Alzheimer's disease
    • Huse JT, Doms RW. Closing in on the amyloid cascade: recent insights into the cell biology of Alzheimer's disease. Mol Neurobiol 2000; 22: 81-98.
    • (2000) Mol Neurobiol , vol.22 , pp. 81-98
    • Huse, J.T.1    Doms, R.W.2
  • 8
    • 0033600301 scopus 로고    scopus 로고
    • Molecular basis of the neurodegenerative disorders
    • Martin JB. Molecular basis of the neurodegenerative disorders. N Engl J Med 1999; 340: 1970-80.
    • (1999) N Engl J Med , vol.340 , pp. 1970-1980
    • Martin, J.B.1
  • 9
    • 0031057837 scopus 로고    scopus 로고
    • Exploring the etiology of Alzheimer disease using molecular genetics
    • Lendon CL, Ashall F, Goate AM. Exploring the etiology of Alzheimer disease using molecular genetics. JAMA 1997; 277: 825-31.
    • (1997) JAMA , vol.277 , pp. 825-831
    • Lendon, C.L.1    Ashall, F.2    Goate, A.M.3
  • 10
  • 12
    • 0027024651 scopus 로고    scopus 로고
    • Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Díaz P, et al. A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene. Nat Genet 1992; 2: 340-2.
    • Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Díaz P, et al. A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene. Nat Genet 1992; 2: 340-2.
  • 13
    • 0027031612 scopus 로고    scopus 로고
    • Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet 1992; 2: 335-9.
    • Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet 1992; 2: 335-9.
  • 14
    • 0031938304 scopus 로고    scopus 로고
    • Presenilin mutations in Alzheimer's disease
    • Cruts M, Van Broeckhoven C. Presenilin mutations in Alzheimer's disease. Hum Mutat 1998; 11: 183-90.
    • (1998) Hum Mutat , vol.11 , pp. 183-190
    • Cruts, M.1    Van Broeckhoven, C.2
  • 15
    • 0029101491 scopus 로고
    • Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
    • Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995; 376: 775-8.
    • (1995) Nature , vol.376 , pp. 775-778
    • Rogaev, E.I.1    Sherrington, R.2    Rogaeva, E.A.3    Levesque, G.4    Ikeda, M.5    Liang, Y.6
  • 17
    • 0034621824 scopus 로고    scopus 로고
    • Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1
    • Li YM, Xu M, Lai MT, Huang Q, Castro JL, DiMuzio-Mower J, et al. Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1. Nature 2000; 405: 689-94.
    • (2000) Nature , vol.405 , pp. 689-694
    • Li, Y.M.1    Xu, M.2    Lai, M.T.3    Huang, Q.4    Castro, J.L.5    DiMuzio-Mower, J.6
  • 19
    • 0033600274 scopus 로고    scopus 로고
    • Translating cell biology into therapeutic advances in Alzheimer's disease
    • Selkoe DJ. Translating cell biology into therapeutic advances in Alzheimer's disease. Nature 1999; 399 (Suppl 6738): A23-31.
    • (1999) Nature , vol.399 , Issue.SUPPL. 6738
    • Selkoe, D.J.1
  • 20
    • 0033966452 scopus 로고    scopus 로고
    • Notch and presenilins in vertebrates and invertebrates: Implications for neuronal development and degeneration
    • Selkoe DJ. Notch and presenilins in vertebrates and invertebrates: implications for neuronal development and degeneration. Curr Opin Neurobiol 2000; 10: 50-7.
    • (2000) Curr Opin Neurobiol , vol.10 , pp. 50-57
    • Selkoe, D.J.1
  • 21
    • 0033959997 scopus 로고    scopus 로고
    • Does dysregulation of the Notch and wingless/Wnt pathways underlie the pathogenesis of Alzheimer's disease?
    • Anderton BH, Dayanandan R, Killick R, Lovestone S. Does dysregulation of the Notch and wingless/Wnt pathways underlie the pathogenesis of Alzheimer's disease? Mol Med Today 2000; 6: 54-9.
    • (2000) Mol Med Today , vol.6 , pp. 54-59
    • Anderton, B.H.1    Dayanandan, R.2    Killick, R.3    Lovestone, S.4
  • 22
    • 12944305721 scopus 로고    scopus 로고
    • Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically
    • Grilli M, Diodato E, Lozza G, Brusa R, Casarini M, Uberti D, et al. Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically. Proc Natl Acad Sci U S A 2000; 97: 12822-7.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 12822-12827
    • Grilli, M.1    Diodato, E.2    Lozza, G.3    Brusa, R.4    Casarini, M.5    Uberti, D.6
  • 23
    • 0028172930 scopus 로고
    • E in animal models of CNS injury and in Alzheimer's disease
    • Poirier J. Apolipoprotein E in animal models of CNS injury and in Alzheimer's disease. Trends Neurosci 1994; 17: 525-30.
    • (1994) Trends Neurosci , vol.17 , pp. 525-530
    • Apolipoprotein, P.J.1
  • 24
    • 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 WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, 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 1993; 90: 1977-81.
    • (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
  • 25
    • 0030823158 scopus 로고    scopus 로고
    • Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium
    • Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 1997; 278: 1349-56.
    • (1997) JAMA , vol.278 , pp. 1349-1356
    • Farrer, L.A.1    Cupples, L.A.2    Haines, J.L.3    Hyman, B.4    Kukull, W.A.5    Mayeux, R.6
  • 26
    • 0029664414 scopus 로고    scopus 로고
    • Apolipoprotein E epsilon4 association with dementia in a population-based study: The Framingham study
    • Myers RH, Schaefer EJ, Wilson PW, D'Agostino R, Ordovas JM, Espino A, et al. Apolipoprotein E epsilon4 association with dementia in a population-based study: the Framingham study. Neurology 1996; 46: 673-7.
    • (1996) Neurology , vol.46 , pp. 673-677
    • Myers, R.H.1    Schaefer, E.J.2    Wilson, P.W.3    D'Agostino, R.4    Ordovas, J.M.5    Espino, A.6
  • 27
    • 0028035306 scopus 로고
    • Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: Implications for Alzheimer disease
    • Strittmatter WJ, Saunders AM, Goedert M, Weisgraber KH, Dong LM, Jakes R, et al. Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease. Proc Natl Acad Sci U S A 1994; 91: 11183-6.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 11183-11186
    • Strittmatter, W.J.1    Saunders, A.M.2    Goedert, M.3    Weisgraber, K.H.4    Dong, L.M.5    Jakes, R.6
  • 28
    • 0028303072 scopus 로고
    • E: Structure-function relationships
    • Weisgraber KH. Apolipoprotein E: structure-function relationships. Adv Protein Chem 1994; 45: 249-320.
    • (1994) Adv Protein Chem , vol.45 , pp. 249-320
    • Apolipoprotein, W.K.H.1
  • 29
    • 4143105546 scopus 로고    scopus 로고
    • Crutcher KA. Apolipoprotein E is a prime suspect, not just an accomplice, in Alzheimer's disease. J Mol Neurosci 2004; 23: 181-8.
    • Crutcher KA. Apolipoprotein E is a prime suspect, not just an accomplice, in Alzheimer's disease. J Mol Neurosci 2004; 23: 181-8.
  • 30
    • 9444271770 scopus 로고    scopus 로고
    • Allelic expression of APOE in human brain: Effects of epsilon status and promoter haplotypes
    • Bray NJ, Jehu L, Moskvina V, Buxbaum JD, Dracheva S, Haroutunian V, et al. Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. Hum Mol Genet 2004; 13: 2885-92.
    • (2004) Hum Mol Genet , vol.13 , pp. 2885-2892
    • Bray, N.J.1    Jehu, L.2    Moskvina, V.3    Buxbaum, J.D.4    Dracheva, S.5    Haroutunian, V.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.