메뉴 건너뛰기




Volumn 57, Issue 4, 2000, Pages 485-488

A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HETERODUPLEX; LEUCINE; PRESENILIN 1;

EID: 0034041861     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.57.4.485     Document Type: Article
Times cited : (19)

References (29)
  • 1
    • 0029004341 scopus 로고
    • Cloning a gene bearing missense mutation in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev E, Liang Y, et al. Cloning a gene bearing missense mutation in early-onset familial Alzheimer's disease. Nature. 1995;375:754-760.
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.2    Liang, Y.3
  • 2
    • 0029087026 scopus 로고
    • Candidate gene for the chromosome 1 familial Alzheimer's disease locus
    • Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995;269:973-977.
    • (1995) Science , vol.269 , pp. 973-977
    • Levy-Lahad, E.1    Wasco, W.2    Poorkaj, P.3
  • 3
    • 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, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991;349:704-709.
    • (1991) Nature , vol.349 , pp. 704-709
    • Goate, A.1    Chartier-Harlin, M.C.2    Mullan, M.3
  • 4
    • 0027327267 scopus 로고
    • Association of apolipoprotein e allele ε4 with late-onset familial and sporadic Alzheimer's disease
    • Saunders A, Strittmatter W, Schemechel D, et al. Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 1993;43:1467-1472.
    • (1993) Neurology , vol.43 , pp. 1467-1472
    • Saunders, A.1    Strittmatter, W.2    Schemechel, D.3
  • 5
    • 0027194791 scopus 로고
    • Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late-onset families
    • Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late-onset families. Science. 1993;261:921-923.
    • (1993) Science , vol.261 , pp. 921-923
    • Corder, E.H.1    Saunders, A.M.2    Strittmatter, W.J.3
  • 8
    • 0028990941 scopus 로고
    • APOE4 associated Alzheimer's disease risk is modified by α-antichymotrypsin polymorphism
    • Kamboh MI, Sanghera DK, Ferrell RE, DeKosky ST. APOE4 associated Alzheimer's disease risk is modified by α-antichymotrypsin polymorphism. Nat Genet. 1995;10:486-488.
    • (1995) Nat Genet , vol.10 , pp. 486-488
    • Kamboh, M.I.1    Sanghera, D.K.2    Ferrell, R.E.3    DeKosky, S.T.4
  • 9
    • 0032498132 scopus 로고    scopus 로고
    • α-Antichymotrypsin and risk for Alzheimer's disease in the Spanish population
    • Ezquerra M, Blesa R, Tolosa E, Ballesta F, Oliva R. α-Antichymotrypsin and risk for Alzheimer's disease in the Spanish population. Neurosci Lett. 1998;240:107-109.
    • (1998) Neurosci Lett , vol.240 , pp. 107-109
    • Ezquerra, M.1    Blesa, R.2    Tolosa, E.3    Ballesta, F.4    Oliva, R.5
  • 10
    • 0029118873 scopus 로고
    • Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease
    • Okuizumi K, Onodera O, Namba Y, et al. Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease. Nat Genet. 1995;11:207-209.
    • (1995) Nat Genet , vol.11 , pp. 207-209
    • Okuizumi, K.1    Onodera, O.2    Namba, Y.3
  • 11
    • 0030731562 scopus 로고    scopus 로고
    • Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset, confirmed Alzheimer's disease
    • Lehmann DJ, Johnston C, Smith AD. Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset, confirmed Alzheimer's disease. Hum Mol Genet. 1997;6:1933-1936.
    • (1997) Hum Mol Genet , vol.6 , pp. 1933-1936
    • Lehmann, D.J.1    Johnston, C.2    Smith, A.D.3
  • 12
    • 17344362232 scopus 로고    scopus 로고
    • Alpha-2 macroglobulin is genetically associated with Alzheimer disease
    • Blaker D, Wilcox MA, Laird NM, et al. Alpha-2 macroglobulin is genetically associated with Alzheimer disease. Nat Genet. 1998;19:357-360.
    • (1998) Nat Genet , vol.19 , pp. 357-360
    • Blaker, D.1    Wilcox, M.A.2    Laird, N.M.3
  • 13
    • 0032932396 scopus 로고    scopus 로고
    • Modulation of the genetic risk of Alzheimer's disease in a very elderly population
    • Kwan-Fu RS, Abraham AM, Vahram H, et al. Modulation of the genetic risk of Alzheimer's disease in a very elderly population. Ann Neurol. 1999;45:48-53.
    • (1999) Ann Neurol , vol.45 , pp. 48-53
    • Kwan-Fu, R.S.1    Abraham, A.M.2    Vahram, H.3
  • 14
    • 0032957648 scopus 로고    scopus 로고
    • A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2
    • Yasuda M, Maeda K, Hashimoto M, et al. A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2. Arch Neurol. 1999; 56:65-69.
    • (1999) Arch Neurol , vol.56 , pp. 65-69
    • Yasuda, M.1    Maeda, K.2    Hashimoto, M.3
  • 15
    • 9344237637 scopus 로고    scopus 로고
    • Complete analysis of the presenilin 1 gene in early-onset Alzheimer's disease
    • Hutton M, Busfield F, Wraag M, et al. Complete analysis of the presenilin 1 gene in early-onset Alzheimer's disease. Neuroreport. 1996;7:801-805.
    • (1996) Neuroreport , vol.7 , pp. 801-805
    • Hutton, M.1    Busfield, F.2    Wraag, M.3
  • 16
    • 6844255860 scopus 로고    scopus 로고
    • Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer's disease
    • Cruts M, Van Duijn CM, Backhoven H, et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer's disease. Hum Mol Genet. 1998;7:43-51.
    • (1998) Hum Mol Genet , vol.7 , pp. 43-51
    • Cruts, M.1    Van Duijn, C.M.2    Backhoven, H.3
  • 17
    • 0030028429 scopus 로고    scopus 로고
    • Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease
    • Wraag M, Hutton M, Talbot C, et al. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Lancet. 1996; 347:509-512.
    • (1996) Lancet , vol.347 , pp. 509-512
    • Wraag, M.1    Hutton, M.2    Talbot, C.3
  • 18
    • 0030906768 scopus 로고    scopus 로고
    • The genotype 2/2 of the presenilin-1 is decreased in Spanish early-onset Alzheimer's disease
    • Ezquerra M, Blesa R, Tolosa E, et al. The genotype 2/2 of the presenilin-1 is decreased in Spanish early-onset Alzheimer's disease. Neurosci Lett. 1997;227: 201-204.
    • (1997) Neurosci Lett , vol.227 , pp. 201-204
    • Ezquerra, M.1    Blesa, R.2    Tolosa, E.3
  • 19
    • 0030994683 scopus 로고    scopus 로고
    • Normalización de instrumentas cognitivos y funcionales para la evaluación de la demencia (NORMACODEM), I: Objetivos, contenidos y población
    • Peña-Casanova J, Aguilar M, Bertrán-Serra I, et al. Normalización de instrumentas cognitivos y funcionales para la evaluación de la demencia (NORMACODEM), I: objetivos, contenidos y población. Neurologia. 1997;12:61-68.
    • (1997) Neurologia , vol.12 , pp. 61-68
    • Peña-Casanova, J.1    Aguilar, M.2    Bertrán-Serra, I.3
  • 20
    • 0031869343 scopus 로고    scopus 로고
    • Significant changes in the τ A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection
    • Oliva R, Tolosa E, Ezquerra M, et al. Significant changes in the τ A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. Arch Neurol. 1998;55:1122-1124.
    • (1998) Arch Neurol , vol.55 , pp. 1122-1124
    • Oliva, R.1    Tolosa, E.2    Ezquerra, M.3
  • 21
    • 0025801744 scopus 로고
    • Apolipoprotein E genotyping by one-stage PCR
    • Wenham PR, Price WH, Blundell G. Apolipoprotein E genotyping by one-stage PCR. Lancet. 1991;337:1158-1159.
    • (1991) Lancet , vol.337 , pp. 1158-1159
    • Wenham, P.R.1    Price, W.H.2    Blundell, G.3
  • 22
    • 0033010135 scopus 로고    scopus 로고
    • A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures
    • Ezquerra M, Carnero C, Blesa R, Gelpí JL, Ballesta F, Oliva R. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology. 1999;52:566-570.
    • (1999) Neurology , vol.52 , pp. 566-570
    • Ezquerra, M.1    Carnero, C.2    Blesa, R.3    Gelpí, J.L.4    Ballesta, F.5    Oliva, R.6
  • 23
    • 0031790549 scopus 로고    scopus 로고
    • A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early-onset Alzheimer disease
    • Ramírez MG, Rogaeva EA, Leal CA, et al. A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early-onset Alzheimer disease. Ann Genet. 1998;41:149-153.
    • (1998) Ann Genet , vol.41 , pp. 149-153
    • Ramírez, M.G.1    Rogaeva, E.A.2    Leal, C.A.3
  • 24
    • 0343957252 scopus 로고    scopus 로고
    • Mutational analysis of presenilin-1 gene in early-onset Alzheimer's disease
    • Kamino K, Sato S, Sakaji Y, et al. Mutational analysis of presenilin-1 gene in early-onset Alzheimer's disease [abstract]. Am J Hum Genet. 1996;59:2320.
    • (1996) Am J Hum Genet , vol.59 , pp. 2320
    • Kamino, K.1    Sato, S.2    Sakaji, Y.3
  • 25
    • 0028812820 scopus 로고
    • Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease
    • Campion D, Flaman JL, Brice A, et al. Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease. Hum Mol Genet. 1995;4:2373-2377.
    • (1995) Hum Mol Genet , vol.4 , pp. 2373-2377
    • Campion, D.1    Flaman, J.L.2    Brice, A.3
  • 26
    • 8244260610 scopus 로고    scopus 로고
    • Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
    • Kwok JB, Taddei K, Hallup M, et al. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport. 1997;14:1537-1542.
    • (1997) Neuroreport , vol.14 , pp. 1537-1542
    • Kwok, J.B.1    Taddei, K.2    Hallup, M.3
  • 27
    • 0031949628 scopus 로고    scopus 로고
    • A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
    • Crook R, Verkkoniemi A, Perez-Tur J, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med. 1998;4:452-455.
    • (1998) Nat Med , vol.4 , pp. 452-455
    • Crook, R.1    Verkkoniemi, A.2    Perez-Tur, J.3
  • 28
    • 0029554875 scopus 로고    scopus 로고
    • A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin 1 gene
    • Perez-Tur J, Froelich S, Prihar G, et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin 1 gene. Neuroreport. 1996;7: 297-301.
    • (1996) Neuroreport , vol.7 , pp. 297-301
    • Perez-Tur, J.1    Froelich, S.2    Prihar, G.3
  • 29
    • 0031893609 scopus 로고    scopus 로고
    • A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease
    • Tysoe C, Whittaker J, Xuereb J, et al. A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am J Hum Genet. 1998;62:70-76.
    • (1998) Am J Hum Genet , vol.62 , pp. 70-76
    • Tysoe, C.1    Whittaker, J.2    Xuereb, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.