메뉴 건너뛰기




Volumn 75, Issue 7, 2004, Pages 1039-1042

Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE; AMYLOID PRECURSOR PROTEIN; GENOMIC DNA;

EID: 2542424288     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.010611     Document Type: Article
Times cited : (111)

References (24)
  • 1
    • 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;349:704-6.
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.C.2    Mullan, M.3
  • 2
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev El, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-60.
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, El.2    Liang, Y.3
  • 3
    • 0029101491 scopus 로고    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
    • 199
    • Rogaev El, Sherrington R, Rogaeva EA, 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 199;376:775-8.
    • Nature , vol.376 , pp. 775-778
    • Rogaev, El.1    Sherrington, R.2    Rogaeva, E.A.3
  • 4
    • 0025296269 scopus 로고
    • Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type
    • Levy E, Carman MD, Fernandez-Madrid IJ, et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990;248:1124-6.
    • (1990) Science , vol.248 , pp. 1124-1126
    • Levy, E.1    Carman, M.D.2    Fernandez-Madrid, I.J.3
  • 5
    • 0034982951 scopus 로고    scopus 로고
    • Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy
    • Grabowski TJ, Cho HS, Vonsattel JP, et al. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann Neurol 2001;49:697-705.
    • (2001) Ann Neurol , vol.49 , pp. 697-705
    • Grabowski, T.J.1    Cho, H.S.2    Vonsattel, J.P.3
  • 6
    • 0026879650 scopus 로고
    • Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene
    • Hendriks L, van Duijn CM, Cras P, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet 1992;1:218-21.
    • (1992) Nat Genet , vol.1 , pp. 218-221
    • Hendriks, L.1    Van Duijn, C.M.2    Cras, P.3
  • 7
    • 17944368176 scopus 로고    scopus 로고
    • The "Arctic" APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation
    • Nilsberth C, Westlind-Danielsson A, Eckman CB, et al. The "Arctic" APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. Nat Neurosci 2001;4:887-93.
    • (2001) Nat Neurosci , vol.4 , pp. 887-893
    • Nilsberth, C.1    Westlind-Danielsson, A.2    Eckman, C.B.3
  • 8
    • 14444269228 scopus 로고    scopus 로고
    • Longitudinal study of cerebrospinal fluid levels of tau, Abeta 1-40, and Abeta 1-42(43) in Alzheimer's disease: A study in Japan
    • Kanai M, Matsubara E, Isoe K, et al. Longitudinal study of cerebrospinal fluid levels of tau, Abeta 1-40, and Abeta 1-42(43) in Alzheimer's disease: a study in Japan. Ann Neurol 1998;44:17-26.
    • (1998) Ann Neurol , vol.44 , pp. 17-26
    • Kanai, M.1    Matsubara, E.2    Isoe, K.3
  • 9
    • 0029865711 scopus 로고    scopus 로고
    • Tau proteins in cerebrospinal fluid from patients with Alzheimer's disease: A longitudinal study
    • Isoe K, Urokami K, Shimomura T, et al. Tau proteins in cerebrospinal fluid from patients with Alzheimer's disease: a longitudinal study. Dementia 1996;7:175-6.
    • (1996) Dementia , vol.7 , pp. 175-176
    • Isoe, K.1    Urokami, K.2    Shimomura, T.3
  • 10
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Repart 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, et al. Clinical diagnosis of Alzheimer's disease: repart of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34:939-44.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3
  • 11
    • 0031820257 scopus 로고    scopus 로고
    • Apolipoprotein E polymorphism in patients with Alzheimer's disease, vascular dementia and ischemic cerebrovascular disease
    • Ji Y, Urakami K, Adachi Y, et al. Apolipoprotein E polymorphism in patients with Alzheimer's disease, vascular dementia and ischemic cerebrovascular disease. Dement Geriatr Cogn Disord 1998;9:243-5.
    • (1998) Dement Geriatr Cogn Disord , vol.9 , pp. 243-245
    • Ji, Y.1    Urakami, K.2    Adachi, Y.3
  • 12
    • 0037188380 scopus 로고    scopus 로고
    • An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala)
    • Pasalar P, Najmabadi H, Noorian AR, et al. An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). Neurology 2002;58:1574-5.
    • (2002) Neurology , vol.58 , pp. 1574-1575
    • Pasalar, P.1    Najmabadi, H.2    Noorian, A.R.3
  • 13
    • 0026907151 scopus 로고
    • A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid
    • Mullan M, Crawford F, Axelman K, et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet 1992;1:345-7.
    • (1992) Nat Genet , vol.1 , pp. 345-347
    • Mullan, M.1    Crawford, F.2    Axelman, K.3
  • 14
    • 0034327364 scopus 로고    scopus 로고
    • Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated Abeta (42) in Alzheimer's disease
    • Kumar-Singh S, De Jonghe C, Cruts M, et al. Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated Abeta (42) in Alzheimer's disease. Hum Mol Genet 2000;9:2589-98.
    • (2000) Hum Mol Genet , vol.9 , pp. 2589-2598
    • Kumar-Singh, S.1    De Jonghe, C.2    Cruts, M.3
  • 15
    • 0033616590 scopus 로고    scopus 로고
    • Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715→Met βAPP-770 mutation responsible for probable early-onset Alzheimer's disease
    • Ancolio K, Dumanchin C, Barelli H, et al. Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715→Met βAPP-770 mutation responsible for probable early-onset Alzheimer's disease. Proc Natl Acad Sci USA 1999;96:4119-24.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 4119-4124
    • Ancolio, K.1    Dumanchin, C.2    Barelli, H.3
  • 16
    • 0035421638 scopus 로고    scopus 로고
    • Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability
    • De Jonghe C, Esselens C, Kumar-Singh S, et al. Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Hum Mol Genet 2000;10:1665-71.
    • (2000) Hum Mol Genet , vol.10 , pp. 1665-1671
    • De Jonghe, C.1    Esselens, C.2    Kumar-Singh, S.3
  • 17
    • 9844261165 scopus 로고    scopus 로고
    • A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of Abeta 42(43)
    • Eckman CB, Mehta ND, Crook R, et al. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of Abeta 42(43). Hum Mol Genet 1997;6:2087-9.
    • (1997) Hum Mol Genet , vol.6 , pp. 2087-2089
    • Eckman, C.B.1    Mehta, N.D.2    Crook, R.3
  • 18
    • 0034094214 scopus 로고    scopus 로고
    • Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene
    • Murrell JR, Hake AM, Quaid KA, et al. Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. Arch Neurol 2000;57:885-7.
    • (2000) Arch Neurol , vol.57 , pp. 885-887
    • Murrell, J.R.1    Hake, A.M.2    Quaid, K.A.3
  • 19
    • 0025950987 scopus 로고
    • A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease
    • Murrell J, Farlow M, Ghetti B, et al. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 1991;254:97-9.
    • (1991) Science , vol.254 , pp. 97-99
    • Murrell, J.1    Farlow, M.2    Ghetti, B.3
  • 20
    • 0026075602 scopus 로고
    • Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene
    • Chartier-Harlin MC, Crawford F, Houlden H, et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 1991;353:844-6.
    • (1991) Nature , vol.353 , pp. 844-846
    • Chartier-Harlin, M.C.1    Crawford, F.2    Houlden, H.3
  • 21
    • 0033966705 scopus 로고    scopus 로고
    • Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis
    • Kwok JB, Li QX, Hallupp M, et al. Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis. Ann Neurol 2000;47:249-53.
    • (2000) Ann Neurol , vol.47 , pp. 249-253
    • Kwok, J.B.1    Li, Q.X.2    Hallupp, M.3
  • 22
    • 0037469171 scopus 로고    scopus 로고
    • Early onset familial Alzheimer's disease: Mutation frequency in 31 families
    • Janssen JC, Beck JA, Campbell TA, et al. Early onset familial Alzheimer's disease: mutation frequency in 31 families. Neurology 2003;60:235-9.
    • (2003) Neurology , vol.60 , pp. 235-239
    • Janssen, J.C.1    Beck, J.A.2    Campbell, T.A.3
  • 23
    • 0035812658 scopus 로고    scopus 로고
    • Identification and characterization of key kinetic intermediates in amyloid beta-protein fibrillogenesis
    • Kirkitadze MD, Condron MM, Teplow DB. Identification and characterization of key kinetic intermediates in amyloid beta-protein fibrillogenesis. J Mol Biol 2001;312:1103-19.
    • (2001) J Mol Biol , vol.312 , pp. 1103-1119
    • Kirkitadze, M.D.1    Condron, M.M.2    Teplow, D.B.3
  • 24
    • 0031031747 scopus 로고    scopus 로고
    • Aspartate residue 7 in amyloid beta-protein is critical for classical complement pathway activation: Implications for Alzheimer's disease pathogenesis
    • Velazquez P, Cribbs DH, Poulos TL, et al. Aspartate residue 7 in amyloid beta-protein is critical for classical complement pathway activation: implications for Alzheimer's disease pathogenesis. Nat Med 1997;3:77-9.
    • (1997) Nat Med , vol.3 , pp. 77-79
    • Velazquez, P.1    Cribbs, D.H.2    Poulos, T.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.