메뉴 건너뛰기




Volumn , Issue , 2014, Pages 27-47

Autosomal dominant Alzheimer's disease: Underlying causes

Author keywords

Alzheimer's disease; APP; Gene; PLD3; PSEN1; PSEN2; TREM2

Indexed keywords


EID: 84920497801     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4471-6380-0_3     Document Type: Chapter
Times cited : (7)

References (122)
  • 1
    • 84901913021 scopus 로고    scopus 로고
    • Accessed 3 Jan
    • Dementia statistics. Available at: http://www.alz.co.uk/research/statistics . Accessed 3 Jan 2014.
    • (2014) Dementia Statistics
  • 2
    • 67650682503 scopus 로고    scopus 로고
    • What is 'early onset dementia'?
    • Review
    • Miyoshi K. What is 'early onset dementia'? Psychogeriatrics. 2009;9(2):67-72 [Review].
    • (2009) Psychogeriatrics , vol.9 , Issue.2 , pp. 67-72
    • Miyoshi, K.1
  • 3
    • 84864471159 scopus 로고    scopus 로고
    • A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
    • Jonsson T, Atwal JK, Steinberg S, Snaedal J, Jonsson PV, Bjornsson S, et al. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature. 2012;488(7409):96-9.
    • (2012) Nature , vol.488 , Issue.7409 , pp. 96-99
    • Jonsson, T.1    Atwal, J.K.2    Steinberg, S.3    Snaedal, J.4    Jonsson, P.V.5    Bjornsson, S.6
  • 4
    • 0041856595 scopus 로고    scopus 로고
    • Epidemiology of neurodegeneration
    • Review
    • Mayeux R. Epidemiology of neurodegeneration. Annu Rev Neurosci. 2003;26:81-104 [Review].
    • (2003) Annu Rev Neurosci. , vol.26 , pp. 81-104
    • Mayeux, R.1
  • 5
    • 84860601892 scopus 로고    scopus 로고
    • The costs of Alzheimer's disease and the value of effective therapies
    • Review
    • Stefanacci RG. The costs of Alzheimer's disease and the value of effective therapies. Am J Manag Care. 2011;17 Suppl 13:S356-62 [Review].
    • (2011) Am J Manag Care. , vol.17 , pp. S356-S362
    • Stefanacci, R.G.1
  • 6
    • 0026597063 scopus 로고
    • Alzheimer's disease: The amyloid cascade hypothesis
    • Review
    • Hardy JA, Higgins GA. Alzheimer's disease: The amyloid cascade hypothesis. Science. 1992;256(5054):184-5 [Review].
    • (1992) Science , vol.256 , Issue.5054 , pp. 184-185
    • Hardy, J.A.1    Higgins, G.A.2
  • 7
    • 13844255273 scopus 로고    scopus 로고
    • Molecular biology and genetics of Alzheimer's disease
    • Review
    • St George-Hyslop PH, Petit A. Molecular biology and genetics of Alzheimer's disease. C R Biol. 2005;328(2):119-30 [Review].
    • (2005) C R Biol. , vol.328 , Issue.2 , pp. 119-130
    • St George-Hyslop, P.H.1    Petit, A.2
  • 8
    • 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(6311):704-6.
    • (1991) Nature , vol.349 , Issue.6311 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.C.2    Mullan, M.3    Brown, J.4    Crawford, F.5    Fidani, L.6
  • 9
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995;375(6534):754-60.
    • (1995) Nature , vol.375 , Issue.6534 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.I.2    Liang, Y.3    Rogaeva, E.A.4    Levesque, G.5    Ikeda, M.6
  • 11
    • 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(6543):775-8.
    • (1995) Nature , vol.376 , Issue.6543 , pp. 775-778
    • Rogaev, E.I.1    Sherrington, R.2    Rogaeva, E.A.3    Levesque, G.4    Ikeda, M.5    Liang, Y.6
  • 12
    • 65449149436 scopus 로고    scopus 로고
    • Alzheimer disease: Autosomal dominant, forms
    • Paris
    • Guyant-Marechal L, Campion D, Hannequin D. Alzheimer disease: Autosomal dominant forms. Rev Neurol (Paris). 2009;165(3):223-31.
    • (2009) Rev Neurol , vol.165 , Issue.3 , pp. 223-231
    • Guyant-Marechal, L.1    Campion, D.2    Hannequin, D.3
  • 13
    • 2542502430 scopus 로고    scopus 로고
    • ApoE genotype accounts for the vast majority of AD risk and AD pathology
    • Raber J, Huang Y, Ashford JW. ApoE genotype accounts for the vast majority of AD risk and AD pathology. Neurobiol Aging. 2004;25(5):641-50.
    • (2004) Neurobiol Aging , vol.25 , Issue.5 , pp. 641-650
    • Raber, J.1    Huang, Y.2    Ashford, J.W.3
  • 14
    • 70349558522 scopus 로고    scopus 로고
    • Genome- wide association study identifi es variants at CLU and PICALM associated with Alzheimer's disease
    • Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, et al. Genome- wide association study identifi es variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009;41(10):1088-93.
    • (2009) Nat Genet , vol.41 , Issue.10 , pp. 1088-1093
    • Harold, D.1    Abraham, R.2    Hollingworth, P.3    Sims, R.4    Gerrish, A.5    Hamshere, M.L.6
  • 15
    • 78549264026 scopus 로고    scopus 로고
    • Genome-wide association study identifi es variants at CLU and CR1 associated with Alzheimer's disease
    • Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, et al. Genome-wide association study identifi es variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet. 2009;41(10):1094-9.
    • (2009) Nat Genet. , vol.41 , Issue.10 , pp. 1094-1099
    • Lambert, J.C.1    Heath, S.2    Even, G.3    Campion, D.4    Sleegers, K.5    Hiltunen, M.6
  • 17
    • 79955464911 scopus 로고    scopus 로고
    • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset alzheimer's disease
    • Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset alzheimer's disease. Nat Genet. 2011;43(5):436-41.
    • (2011) Nat Genet. , vol.43 , Issue.5 , pp. 436-441
    • Naj, A.C.1    Jun, G.2    Beecham, G.W.3    Wang, L.S.4    Vardarajan, B.N.5    Buros, J.6
  • 18
    • 79955484414 scopus 로고    scopus 로고
    • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
    • Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011;43(5):429-35.
    • (2011) Nat Genet. , vol.43 , Issue.5 , pp. 429-435
    • Hollingworth, P.1    Harold, D.2    Sims, R.3    Gerrish, A.4    Lambert, J.C.5    Carrasquillo, M.M.6
  • 19
    • 33846613222 scopus 로고    scopus 로고
    • The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
    • Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet. 2007;39(2): 168-77.
    • (2007) Nat Genet. , vol.39 , Issue.2 , pp. 168-177
    • Rogaeva, E.1    Meng, Y.2    Lee, J.H.3    Gu, Y.4    Kawarai, T.5    Zou, F.6
  • 20
    • 84888317489 scopus 로고    scopus 로고
    • Extended meta-analysis of 74, 538 individuals identifi es 11 new susceptibility loci for Alzheimer's disease
    • Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, et al. Extended meta-analysis of 74, 538 individuals identifi es 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 2013;45(12):1452-8.
    • (2013) Nat Genet. , vol.45 , Issue.12 , pp. 1452-1458
    • Lambert, J.C.1    Ibrahim-Verbaas, C.A.2    Harold, D.3    Naj, A.C.4    Sims, R.5
  • 21
    • 84881543098 scopus 로고    scopus 로고
    • Amyloid beta precursor protein as a molecular target for amyloid beta-induced neuronal degeneration in Alzheimer's disease
    • Bignante EA, Heredia F, Morfini G, Lorenzo A. Amyloid beta precursor protein as a molecular target for amyloid beta-induced neuronal degeneration in Alzheimer's disease. Neurobiol Aging. 2013;34:2525-37.
    • (2013) Neurobiol Aging. , vol.34 , pp. 2525-2537
    • Bignante, E.A.1    Heredia, F.2    Morfini, G.3    Lorenzo, A.4
  • 22
    • 84655160771 scopus 로고    scopus 로고
    • Activation of alpha-secretase cleavage
    • Review
    • Postina R. Activation of alpha-secretase cleavage. J Neurochem. 2012;120 Suppl 1:46-54 [Review].
    • (2012) J Neurochem , vol.120 , pp. 46-54
    • Postina, R.1
  • 23
    • 0242330374 scopus 로고    scopus 로고
    • ADAMs family members as amyloid precursor protein alpha-secretases
    • Allinson TM, Parkin ET, Turner AJ, Hooper NM. ADAMs family members as amyloid precursor protein alpha-secretases. J Neurosci Res. 2003;74(3):342-52.
    • (2003) J Neurosci Res. , vol.74 , Issue.3 , pp. 342-352
    • Allinson, T.M.1    Parkin, E.T.2    Turner, A.J.3    Hooper, N.M.4
  • 24
    • 0035486922 scopus 로고    scopus 로고
    • Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
    • Nicolaou M, Song YQ, Sato CA, Orlacchio A, Kawarai T, Medeiros H, et al. Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease. Neurogenetics. 2001;3(4):203-6.
    • (2001) Neurogenetics , vol.3 , Issue.4 , pp. 203-206
    • Nicolaou, M.1    Song, Y.Q.2    Sato, C.A.3    Orlacchio, A.4    Kawarai, T.5    Medeiros, H.6
  • 25
    • 0035798269 scopus 로고    scopus 로고
    • Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset alzheimer's disease
    • Cruts M, Dermaut B, Rademakers R, Roks G, Van den Broeck M, Munteanu G, et al. Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset alzheimer's disease. Neurosci Lett. 2001;313(1-2):105-7.
    • (2001) Neurosci Lett. , vol.313 , Issue.1-2 , pp. 105-107
    • Cruts, M.1    Dermaut, B.2    Rademakers, R.3    Roks, G.4    Van Den Broeck, M.5    Munteanu, G.6
  • 26
    • 0026745610 scopus 로고
    • Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production
    • Citron M, Oltersdorf T, Haass C, McConlogue L, Hung AY, Seubert P, et al. Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Nature. 1992;360(6405):672-4.
    • (1992) Nature , vol.360 , Issue.6405 , pp. 672-674
    • Citron, M.1    Oltersdorf, T.2    Haass, C.3    McConlogue, L.4    Hung, A.Y.5    Seubert, P.6
  • 27
    • 33745614108 scopus 로고    scopus 로고
    • The gamma-secretase complex: Membrane-embedded proteolytic ensemble
    • Review
    • Wolfe MS. The gamma-secretase complex: membrane-embedded proteolytic ensemble. Biochemistry. 2006;45(26):7931-9 [Review].
    • (2006) Biochemistry , vol.45 , Issue.26 , pp. 7931-7939
    • Wolfe, M.S.1
  • 28
    • 35348860241 scopus 로고    scopus 로고
    • Presenilin: Running with scissors in the membrane
    • Review
    • Selkoe DJ, Wolfe MS. Presenilin: running with scissors in the membrane. Cell. 2007;131(2):215-21 [Review].
    • (2007) Cell , vol.131 , Issue.2 , pp. 215-221
    • Selkoe, D.J.1    Wolfe, M.S.2
  • 29
    • 0033617402 scopus 로고    scopus 로고
    • Involvement of caspases in proteolytic cleavage of Alzheimer's amyloid-beta precursor protein and amyloidogenic A beta peptide formation
    • Gervais FG, Xu D, Robertson GS, Vaillancourt JP, Zhu Y, Huang J, et al. Involvement of caspases in proteolytic cleavage of Alzheimer's amyloid-beta precursor protein and amyloidogenic A beta peptide formation. Cell. 1999;97(3):395-406.
    • (1999) Cell , vol.97 , Issue.3 , pp. 395-406
    • Gervais, F.G.1    Xu, D.2    Robertson, G.S.3    Vaillancourt, J.P.4    Zhu, Y.5    Huang, J.6
  • 30
    • 0034107524 scopus 로고    scopus 로고
    • A second cytotoxic proteolytic peptide derived from amyloid beta-protein precursor
    • Lu DC, Rabizadeh S, Chandra S, Shayya RF, Ellerby LM, Ye X, et al. A second cytotoxic proteolytic peptide derived from amyloid beta-protein precursor. Nat Med. 2000;6(4):397-404.
    • (2000) Nat Med , vol.6 , Issue.4 , pp. 397-404
    • Lu, D.C.1    Rabizadeh, S.2    Chandra, S.3    Shayya, R.F.4    Ellerby, L.M.5    Ye, X.6
  • 31
    • 0036548070 scopus 로고    scopus 로고
    • Gamma-Secretase, Notch, Abeta and Alzheimer's disease: Where do the presenilins fit in?
    • Sisodia SS, St George-Hyslop PH. gamma-Secretase, Notch, Abeta and Alzheimer's disease: Where do the presenilins fit in? Nat Rev Neurosci. 2002;3(4):281-90.
    • (2002) Nat Rev Neurosci. , vol.3 , Issue.4 , pp. 281-290
    • Sisodia, S.S.1    St George-Hyslop, P.H.2
  • 32
    • 84865176138 scopus 로고    scopus 로고
    • Locus-specifi c mutation databases for neurodegenerative brain diseases
    • Cruts M, Theuns J, Van Broeckhoven C. Locus-specifi c mutation databases for neurodegenerative brain diseases. Hum Mutat. 2012;33(9):1340-4.
    • (2012) Hum Mutat. , vol.33 , Issue.9 , pp. 1340-1344
    • Cruts, M.1    Theuns, J.2    Van Broeckhoven, C.3
  • 33
    • 0025296269 scopus 로고
    • Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type
    • Levy E, Carman MD, Fernandez-Madrid IJ, Power MD, Lieberburg I, van Duinen SG, et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science. 1990;248(4959):1124-6.
    • (1990) Science , vol.248 , Issue.4959 , pp. 1124-1126
    • Levy, E.1    Carman, M.D.2    Fernandez-Madrid, I.J.3    Power, M.D.4    Lieberburg, I.5    Van Duinen, S.G.6
  • 34
    • 0025369198 scopus 로고
    • Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)
    • Van Broeckhoven C, Haan J, Bakker E, Hardy JA, Van Hul W, Wehnert A, et al. Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science. 1990;248(4959):1120-2.
    • (1990) Science , vol.248 , Issue.4959 , pp. 1120-1122
    • Van Broeckhoven, C.1    Haan, J.2    Bakker, E.3    Hardy, J.A.4    Van Hul, W.5    Wehnert, A.6
  • 35
    • 0025939678 scopus 로고
    • Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage
    • Fernandez-Madrid I, Levy E, Marder K, Frangione B. Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage. Ann Neurol. 1991;30(5):730-3.
    • (1991) Ann Neurol. , vol.30 , Issue.5 , pp. 730-733
    • Fernandez-Madrid, I.1    Levy, E.2    Marder, K.3    Frangione, B.4
  • 36
    • 0029894227 scopus 로고    scopus 로고
    • Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): I-A review of clinical, radiologic and genetic aspects
    • Review
    • Bornebroek M, Haan J, Maat-Schieman ML, Van Duinen SG, Roos RA. Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): I-A review of clinical, radiologic and genetic aspects. Brain Pathol. 1996;6(2):111-4 [Review].
    • (1996) Brain Pathol. , vol.6 , Issue.2 , pp. 111-114
    • Bornebroek, M.1    Haan, J.2    Maat-Schieman, M.L.3    Van Duinen, S.G.4    Roos, R.A.5
  • 37
    • 77955452492 scopus 로고    scopus 로고
    • Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP
    • Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, et al. Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. Arch Neurol. 2010;67(8):987-95.
    • (2010) Arch Neurol. , vol.67 , Issue.8 , pp. 987-995
    • Bugiani, O.1    Giaccone, G.2    Rossi, G.3    Mangieri, M.4    Capobianco, R.5    Morbin, M.6
  • 38
    • 0026733343 scopus 로고
    • Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region
    • Kamino K, Orr HT, Payami H, Wijsman EM, Alonso ME, Pulst SM, et al. Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am J Hum Genet. 1992;51(5):998-1014.
    • (1992) Am J Hum Genet. , vol.51 , Issue.5 , pp. 998-1014
    • Kamino, K.1    Orr, H.T.2    Payami, H.3    Wijsman, E.M.4    Alonso, M.E.5    Pulst, S.M.6
  • 39
  • 40
    • 41749096713 scopus 로고    scopus 로고
    • A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia
    • Tomiyama T, Nagata T, Shimada H, Teraoka R, Fukushima A, Kanemitsu H, et al. A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia. Ann Neurol. 2008;63(3):377-87.
    • (2008) Ann Neurol. , vol.63 , Issue.3 , pp. 377-387
    • Tomiyama, T.1    Nagata, T.2    Shimada, H.3    Teraoka, R.4    Fukushima, A.5    Kanemitsu, H.6
  • 41
    • 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, Rebeck GW, Greenberg SM. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann Neurol. 2001;49(6):697-705.
    • (2001) Ann Neurol. , vol.49 , Issue.6 , pp. 697-705
    • Grabowski, T.J.1    Cho, H.S.2    Vonsattel, J.P.3    Rebeck, G.W.4    Greenberg, S.M.5
  • 43
    • 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, Cruts M, Van Hul W, van Harskamp F, 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(3):218-21.
    • (1992) Nat Genet. , vol.1 , Issue.3 , pp. 218-221
    • Hendriks, L.1    Van Duijn, C.M.2    Cras, P.3    Cruts, M.4    Van Hul, W.5    Van Harskamp, F.6
  • 44
    • 0033774379 scopus 로고    scopus 로고
    • Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)
    • Roks G, Van Harskamp F, De Koning I, Cruts M, De Jonghe C, Kumar-Singh S, et al. Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). Brain. 2000;123(Pt 10):2130-40.
    • (2000) Brain , vol.123 , pp. 2130-2140
    • Roks, G.1    Van Harskamp, F.2    De Koning, I.3    Cruts, M.4    De Jonghe, C.5    Kumar-Singh, S.6
  • 45
    • 0036968368 scopus 로고    scopus 로고
    • Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric
    • Kumar-Singh S, Cras P, Wang R, Kros JM, van Swieten J, Lubke U, et al. Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric. Am J Pathol. 2002;161(2):507-20.
    • (2002) Am J Pathol. , vol.161 , Issue.2 , pp. 507-520
    • Kumar-Singh, S.1    Cras, P.2    Wang, R.3    Kros, J.M.4    Van Swieten, J.5    Lubke, U.6
  • 46
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, et al. APP locus duplication causes autosomal dominant early-onset alzheimer disease with cerebral amyloid angiopathy. Nat Genet. 2006;38(1):24-6.
    • (2006) Nat Genet. , vol.38 , Issue.1 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3    Le Meur, N.4    Laquerriere, A.5    Vital, A.6
  • 49
    • 0028246308 scopus 로고
    • Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor
    • Haass C, Hung AY, Selkoe DJ, Teplow DB. Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor. J Biol Chem. 1994;269(26):17741-8.
    • (1994) J Biol Chem. , vol.269 , Issue.26 , pp. 17741-17748
    • Haass, C.1    Hung, A.Y.2    Selkoe, D.J.3    Teplow, D.B.4
  • 50
    • 0034327364 scopus 로고    scopus 로고
    • Nonfi brillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease
    • Kumar-Singh S, De Jonghe C, Cruts M, Kleinert R, Wang R, Mercken M, et al. Nonfi brillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease. Hum Mol Genet. 2000;9(18): 2589-98.
    • (2000) Hum Mol Genet. , vol.9 , Issue.18 , pp. 2589-2598
    • Kumar-Singh, S.1    De Jonghe, C.2    Cruts, M.3    Kleinert, R.4    Wang, R.5    Mercken, M.6
  • 51
    • 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, Craessaerts K, Serneels S, Checler F, et al. Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Hum Mol Genet. 2001;10(16):1665-71.
    • (2001) Hum Mol Genet. , vol.10 , Issue.16 , pp. 1665-1671
    • De Jonghe, C.1    Esselens, C.2    Kumar-Singh, S.3    Craessaerts, K.4    Serneels, S.5    Checler, F.6
  • 53
    • 9844261165 scopus 로고    scopus 로고
    • A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)
    • Eckman CB, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, et al. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Hum Mol Genet. 1997;6(12):2087-9.
    • (1997) Hum Mol Genet. , vol.6 , Issue.12 , pp. 2087-2089
    • Eckman, C.B.1    Mehta, N.D.2    Crook, R.3    Perez-Tur, J.4    Prihar, G.5    Pfeiffer, E.6
  • 54
    • 67349212228 scopus 로고    scopus 로고
    • Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase
    • Herl L, Thomas AV, Lill CM, Banks M, Deng A, Jones PB, et al. Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase. Mol Cell Neurosci. 2009;41(2):166-74.
    • (2009) Mol Cell Neurosci. , vol.41 , Issue.2 , pp. 166-174
    • Herl, L.1    Thomas, A.V.2    Lill, C.M.3    Banks, M.4    Deng, A.5    Jones, P.B.6
  • 55
    • 0028099612 scopus 로고
    • Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation
    • Citron M, Vigo-Pelfrey C, Teplow DB, Miller C, Schenk D, Johnston J, et al. Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation. Proc Natl Acad Sci U S A. 1994;91(25):11993-7.
    • (1994) Proc Natl Acad Sci U S A. , vol.91 , Issue.25 , pp. 11993-11997
    • Citron, M.1    Vigo-Pelfrey, C.2    Teplow, D.B.3    Miller, C.4    Schenk, D.5    Johnston, J.6
  • 56
    • 0029989591 scopus 로고    scopus 로고
    • Enhanced release of amyloid beta-protein from codon 670/671 "Swedish" mutant beta-amyloid precursor protein occurs in both secretory and endocytic pathways
    • Perez RG, Squazzo SL, Koo EH. Enhanced release of amyloid beta-protein from codon 670/671 "Swedish" mutant beta-amyloid precursor protein occurs in both secretory and endocytic pathways. J Biol Chem. 1996;271(15):9100-7.
    • (1996) J Biol Chem. , vol.271 , Issue.15 , pp. 9100-9107
    • Perez, R.G.1    Squazzo, S.L.2    Koo, E.H.3
  • 57
    • 0035812658 scopus 로고    scopus 로고
    • Identifi cation and characterization of key kinetic intermediates in amyloid beta-protein fi brillogenesis
    • Kirkitadze MD, Condron MM, Teplow DB. Identifi cation and characterization of key kinetic intermediates in amyloid beta-protein fi brillogenesis. J Mol Biol. 2001;312(5):1103-19.
    • (2001) J Mol Biol. , vol.312 , Issue.5 , pp. 1103-1119
    • Kirkitadze, M.D.1    Condron, M.M.2    Teplow, D.B.3
  • 58
    • 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, Houlden H, Lilius L, Winblad B, 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(5):345-7.
    • (1992) Nat Genet. , vol.1 , Issue.5 , pp. 345-347
    • Mullan, M.1    Crawford, F.2    Axelman, K.3    Houlden, H.4    Lilius, L.5    Winblad, B.6
  • 59
    • 62449330486 scopus 로고    scopus 로고
    • A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis
    • Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G, et al. A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. Science. 2009;323(5920):1473-7.
    • (2009) Science , vol.323 , Issue.5920 , pp. 1473-1477
    • Di Fede, G.1    Catania, M.2    Morbin, M.3    Rossi, G.4    Suardi, S.5    Mazzoleni, G.6
  • 60
    • 84885805725 scopus 로고    scopus 로고
    • Evidence of recessive Alzheimer's disease loci in Caribbean Hispanics: Genome-wide survey of runs of homozygosity
    • Ghani M, Sato C, Lee J, Reitz C, Moreno D, Mayeux R, et al. Evidence of recessive Alzheimer's disease loci in Caribbean Hispanics: genome-wide survey of runs of homozygosity. JAMA Neurol. 2013;70(10):1261-7. doi:10.1001/jamaneurol.2013.3545.
    • (2013) JAMA Neurol. , vol.70 , Issue.10 , pp. 1261-1267
    • Ghani, M.1    Sato, C.2    Lee, J.3    Reitz, C.4    Moreno, D.5    Mayeux, R.6
  • 61
    • 82755161904 scopus 로고    scopus 로고
    • Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
    • e13-21
    • McNaughton D, Knight W, Guerreiro R, Ryan N, Lowe J, Poulter M, et al. Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiol Aging. 2012;33(2):426.e13-21.
    • (2012) Neurobiol Aging. , vol.33 , Issue.2 , pp. 426
    • McNaughton, D.1    Knight, W.2    Guerreiro, R.3    Ryan, N.4    Lowe, J.5    Poulter, M.6
  • 62
    • 33750588301 scopus 로고    scopus 로고
    • Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease
    • Brouwers N, Sleegers K, Engelborghs S, Bogaerts V, Serneels S, Kamali K, et al. Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease. Brain. 2006;129(Pt 11):2984-91.
    • (2006) Brain , vol.129 , pp. 2984-2991
    • Brouwers, N.1    Sleegers, K.2    Engelborghs, S.3    Bogaerts, V.4    Serneels, S.5    Kamali, K.6
  • 63
    • 84866771520 scopus 로고    scopus 로고
    • Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics
    • Ghani M, Pinto D, Lee JH, Grinberg Y, Sato C, Moreno D, et al. Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda). 2012;2(1):71-8.
    • (2012) G3 (Bethesda) , vol.2 , Issue.1 , pp. 71-78
    • Ghani, M.1    Pinto, D.2    Lee, J.H.3    Grinberg, Y.4    Sato, C.5    Moreno, D.6
  • 68
    • 0026471656 scopus 로고
    • Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14
    • Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science. 1992;258(5082):668-71.
    • (1992) Science , vol.258 , Issue.5082 , pp. 668-671
    • Schellenberg, G.D.1    Bird, T.D.2    Wijsman, E.M.3    Orr, H.T.4    Anderson, L.5    Nemens, E.6
  • 69
    • 0027032695 scopus 로고
    • Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14
    • St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet. 1992;2(4):330-4.
    • (1992) Nat Genet. , vol.2 , Issue.4 , pp. 330-334
    • St, G.-H.P.1    Haines, J.2    Rogaev, E.3    Mortilla, M.4    Vaula, G.5    Pericak-Vance, M.6
  • 70
    • 58749109023 scopus 로고    scopus 로고
    • Genevestigator v3: A reference expression database for the meta-analysis of transcriptomes
    • Epub 2008 Jul 8
    • Hruz T, Laule O, Szabo G, Wessendorp F, Bleuler S, Oertle L, et al. Genevestigator v3: A reference expression database for the meta-analysis of transcriptomes. Adv Bioinformatics. 2008;2008:420747. doi:10.1155/2008/420747 Epub 2008 Jul 8.
    • (2008) Adv Bioinformatics. 2008 , pp. 420747
    • Hruz, T.1    Laule, O.2    Szabo, G.3    Wessendorp, F.4    Bleuler, S.5    Oertle, L.6
  • 71
    • 0033615580 scopus 로고    scopus 로고
    • The presenilins in Alzheimer's disease-proteolysis holds the key
    • Haass C, De Strooper B. The presenilins in Alzheimer's disease-proteolysis holds the key. Science. 1999;286(5441):916-9.
    • (1999) Science , vol.286 , Issue.5441 , pp. 916-919
    • Haass, C.1    De Strooper, B.2
  • 72
    • 0034618715 scopus 로고    scopus 로고
    • Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing
    • Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, et al. Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature. 2000;407(6800):48-54.
    • (2000) Nature , vol.407 , Issue.6800 , pp. 48-54
    • Yu, G.1    Nishimura, M.2    Arawaka, S.3    Levitan, D.4    Zhang, L.5    Tandon, A.6
  • 73
    • 84655162703 scopus 로고    scopus 로고
    • Assembly of the presenilin gamma-/epsilon-secretase complex
    • Review
    • St George-Hyslop P, Fraser PE. Assembly of the presenilin gamma-/epsilon-secretase complex. J Neurochem. 2012;120 Suppl 1:84-8 [Review].
    • (2012) J Neurochem. , vol.120 , pp. 84-88
    • St, G.-H.P.1    Fraser, P.E.2
  • 74
    • 0030293676 scopus 로고    scopus 로고
    • Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo
    • Borchelt DR, Thinakaran G, Eckman CB, Lee MK, Davenport F, Ratovitsky T, et al. Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo. Neuron. 1996;17(5):1005-13.
    • (1996) Neuron , vol.17 , Issue.5 , pp. 1005-1013
    • Borchelt, D.R.1    Thinakaran, G.2    Eckman, C.B.3    Lee, M.K.4    Davenport, F.5    Ratovitsky, T.6
  • 75
    • 16044365171 scopus 로고    scopus 로고
    • The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology
    • Lemere CA, Lopera F, Kosik KS, Lendon CL, Ossa J, Saido TC, et al. The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology. Nat Med. 1996;2(10):1146-50.
    • (1996) Nat Med. , vol.2 , Issue.10 , pp. 1146-1150
    • Lemere, C.A.1    Lopera, F.2    Kosik, K.S.3    Lendon, C.L.4    Ossa, J.5    Saido, T.C.6
  • 76
    • 9444276544 scopus 로고    scopus 로고
    • Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: Predominance of Abeta42(43)
    • Mann DM, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, et al. Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43). Ann Neurol. 1996;40(2):149-56.
    • (1996) Ann Neurol. , vol.40 , Issue.2 , pp. 149-156
    • Mann, D.M.1    Iwatsubo, T.2    Cairns, N.J.3    Lantos, P.L.4    Nochlin, D.5    Sumi, S.M.6
  • 77
    • 0030614569 scopus 로고    scopus 로고
    • Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: The Volga German families
    • Mann DM, Iwatsubo T, Nochlin D, Sumi SM, Levy-Lahad E, Bird TD. Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: The Volga German families. Ann Neurol. 1997;41(1):52-7.
    • (1997) Ann Neurol. , vol.41 , Issue.1 , pp. 52-57
    • Mann, D.M.1    Iwatsubo, T.2    Nochlin, D.3    Sumi, S.M.4    Levy-Lahad, E.5    Bird, T.D.6
  • 78
    • 0033535553 scopus 로고    scopus 로고
    • Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity
    • Wolfe MS, Xia W, Ostaszewski BL, Diehl TS, Kimberly WT, Selkoe DJ. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity. Nature. 1999;398(6727):513-7.
    • (1999) Nature , vol.398 , Issue.6727 , pp. 513-517
    • Wolfe, M.S.1    Xia, W.2    Ostaszewski, B.L.3    Diehl, T.S.4    Kimberly, W.T.5    Selkoe, D.J.6
  • 79
    • 57649155865 scopus 로고    scopus 로고
    • Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation
    • Fluhrer R, Fukumori A, Martin L, Grammer G, Haug-Kroper M, Klier B, et al. Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation. J Biol Chem. 2008;283(44):30121-8.
    • (2008) J Biol Chem. , vol.283 , Issue.44 , pp. 30121-30128
    • Fluhrer, R.1    Fukumori, A.2    Martin, L.3    Grammer, G.4    Haug-Kroper, M.5    Klier, B.6
  • 80
    • 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, Mehta N, Baker M, Houlden H, 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(4):452-5.
    • (1998) Nat Med. , vol.4 , Issue.4 , pp. 452-455
    • Crook, R.1    Verkkoniemi, A.2    Perez-Tur, J.3    Mehta, N.4    Baker, M.5    Houlden, H.6
  • 81
    • 0035964209 scopus 로고    scopus 로고
    • Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
    • Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, et al. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001;57(4): 621-5.
    • (2001) Neurology , vol.57 , Issue.4 , pp. 621-625
    • Rogaeva, E.A.1    Fafel, K.C.2    Song, Y.Q.3    Medeiros, H.4    Sato, C.5    Liang, Y.6
  • 82
    • 0032854745 scopus 로고    scopus 로고
    • Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion
    • De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, et al. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum Mol Genet. 1999;8(8):1529-40.
    • (1999) Hum Mol Genet. , vol.8 , Issue.8 , pp. 1529-1540
    • De Jonghe, C.1    Cruts, M.2    Rogaeva, E.A.3    Tysoe, C.4    Singleton, A.5    Vanderstichele, H.6
  • 83
    • 84872424224 scopus 로고    scopus 로고
    • A presenilin 1 mutation in the first case of Alzheimer's disease
    • Muller U, Winter P, Graeber MB. A presenilin 1 mutation in the fi rst case of Alzheimer's disease. Lancet Neurol. 2013;12(2):129-30.
    • (2013) Lancet, Neurol , vol.12 , Issue.2 , pp. 129-130
    • Muller, U.1    Winter, P.2    Graeber, M.B.3
  • 84
    • 84884647935 scopus 로고    scopus 로고
    • The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-epsilon4 Carriers
    • Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, et al. The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-epsilon4 Carriers. PLoS Genet. 2013;9(8):e1003685.
    • (2013) PLoS Genet. , vol.9 , Issue.8 , pp. e1003685
    • Benitez, B.A.1    Karch, C.M.2    Cai, Y.3    Jin, S.C.4    Cooper, B.5    Carrell, D.6
  • 85
    • 28944432753 scopus 로고    scopus 로고
    • Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life
    • Snider BJ, Norton J, Coats MA, Chakraverty S, Hou CE, Jervis R, et al. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol. 2005;62(12):1821-30.
    • (2005) Arch Neurol. , vol.62 , Issue.12 , pp. 1821-1830
    • Snider, B.J.1    Norton, J.2    Coats, M.A.3    Chakraverty, S.4    Hou, C.E.5    Jervis, R.6
  • 86
    • 33746103277 scopus 로고    scopus 로고
    • Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing earlyonset alzheimer's disease in Mexican families
    • Yescas P, Huertas-Vazquez A, Villarreal-Molina MT, Rasmussen A, Tusie-Luna MT, Lopez M, et al. Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing earlyonset alzheimer's disease in Mexican families. Neurogenetics. 2006;7(3):195-200.
    • (2006) Neurogenetics , vol.7 , Issue.3 , pp. 195-200
    • Yescas, P.1    Huertas-Vazquez, A.2    Villarreal-Molina, M.T.3    Rasmussen, A.4    Tusie-Luna, M.T.5    Lopez, M.6
  • 87
    • 33750037617 scopus 로고    scopus 로고
    • The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: An additional fifteen families
    • Murrell J, Ghetti B, Cochran E, Macias-Islas MA, Medina L, Varpetian A, et al. The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: An additional fifteen families. Neurogenetics. 2006;7(4):277-9.
    • (2006) Neurogenetics , vol.7 , Issue.4 , pp. 277-279
    • Murrell, J.1    Ghetti, B.2    Cochran, E.3    MacIas-Islas, M.A.4    Medina, L.5    Varpetian, A.6
  • 88
    • 0035860986 scopus 로고    scopus 로고
    • A founder mutation in presenilin 1 causing early-onset alzheimer disease in unrelated Caribbean Hispanic families
    • Athan ES, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, et al. A founder mutation in presenilin 1 causing early-onset alzheimer disease in unrelated Caribbean Hispanic families. JAMA. 2001;286(18):2257-63.
    • (2001) JAMA , vol.286 , Issue.18 , pp. 2257-2263
    • Athan, E.S.1    Williamson, J.2    Ciappa, A.3    Santana, V.4    Romas, S.N.5    Lee, J.H.6
  • 89
    • 0035830436 scopus 로고    scopus 로고
    • Incidence of AD in African- Americans, caribbean hispanics, and caucasians in northern manhattan
    • Tang MX, Cross P, Andrews H, Jacobs DM, Small S, Bell K, et al. Incidence of AD in African- Americans, Caribbean Hispanics, and Caucasians in northern Manhattan. Neurology. 2001;56(1):49-56.
    • (2001) Neurology , vol.56 , Issue.1 , pp. 49-56
    • Tang, M.X.1    Cross, P.2    Andrews, H.3    Jacobs, D.M.4    Small, S.5    Bell, K.6
  • 90
    • 0036364359 scopus 로고    scopus 로고
    • The solved and unsolved mysteries of the genetics of early-onset alzheimer's disease
    • Review
    • Rogaeva E. The solved and unsolved mysteries of the genetics of early-onset alzheimer's disease. Neuromolecular Med. 2002;2(1):1-10 [Review].
    • (2002) Neuromolecular Med. , vol.2 , Issue.1 , pp. 1-10
    • Rogaeva, E.1
  • 91
    • 0034763328 scopus 로고    scopus 로고
    • Cotton wool plaques in non-familial lateonset alzheimer disease
    • Le TV, Crook R, Hardy J, Dickson DW. Cotton wool plaques in non-familial lateonset alzheimer disease. J Neuropathol Exp Neurol. 2001;60(11):1051-61.
    • (2001) J Neuropathol Exp Neurol , vol.60 , Issue.11 , pp. 1051-1061
    • Le, T.V.1    Crook, R.2    Hardy, J.3    Dickson, D.W.4
  • 92
    • 0142125743 scopus 로고    scopus 로고
    • Variability and heterogeneity in Alzheimer's disease with cotton wool plaques: A clinicopathological study of four autopsy cases
    • Yokota O, Terada S, Ishizu H, Ujike H, Ishihara T, Namba M, et al. Variability and heterogeneity in Alzheimer's disease with cotton wool plaques: A clinicopathological study of four autopsy cases. Acta Neuropathol. 2003;106(4):348-56.
    • (2003) Acta Neuropathol. , vol.106 , Issue.4 , pp. 348-356
    • Yokota, O.1    Terada, S.2    Ishizu, H.3    Ujike, H.4    Ishihara, T.5    Namba, M.6
  • 93
    • 0034076439 scopus 로고    scopus 로고
    • Identifi cation of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset alzheimer's disease family: An Alu core sequencestimulated recombination?
    • Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, et al. Identifi cation of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset alzheimer's disease family: An Alu core sequencestimulated recombination? Eur J Hum Genet. 2000;8(4):259-66.
    • (2000) Eur J Hum Genet , vol.8 , Issue.4 , pp. 259-266
    • Hiltunen, M.1    Helisalmi, S.2    Mannermaa, A.3    Alafuzoff, I.4    Koivisto, A.M.5    Lehtovirta, M.6
  • 95
    • 84874251022 scopus 로고    scopus 로고
    • Variant Alzheimer's disease with spastic paraparesis and supranuclear gaze palsy
    • Sinha N, Grimes D, Tokuhiro S, Sato C, Rogaeva E, Woulfe J. Variant Alzheimer's disease with spastic paraparesis and supranuclear gaze palsy. Can J Neurol Sci. 2013;40(2):249-51.
    • (2013) Can J Neurol Sci. , vol.40 , Issue.2 , pp. 249-251
    • Sinha, N.1    Grimes, D.2    Tokuhiro, S.3    Sato, C.4    Rogaeva, E.5    Woulfe, J.6
  • 96
    • 11144357241 scopus 로고    scopus 로고
    • A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques
    • Research Support, Non-U.S. Gov't
    • Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol. 2004;55(5):617-26 [Research Support, Non-U.S. Gov't].
    • (2004) Ann Neurol. , vol.55 , Issue.5 , pp. 617-626
    • Dermaut, B.1    Kumar-Singh, S.2    Engelborghs, S.3    Theuns, J.4    Rademakers, R.5    Saerens, J.6
  • 97
    • 84876095400 scopus 로고    scopus 로고
    • A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene
    • Sitek EJ, Narozanska E, Peplonska B, Filipek S, Barczak A, Styczynska M, et al. A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. PLoS One. 2013;8(4):e61074.
    • (2013) PLoS One. , vol.8 , Issue.4 , pp. e61074
    • Sitek, E.J.1    Narozanska, E.2    Peplonska, B.3    Filipek, S.4    Barczak, A.5    Styczynska, M.6
  • 98
    • 84879610349 scopus 로고    scopus 로고
    • The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia
    • Mahoney CJ, Downey LE, Beck J, Liang Y, Mead S, Perry RJ, et al. The Presenilin 1 P264L Mutation Presenting as non-Fluent/Agrammatic Primary Progressive Aphasia. J Alzheimers Dis. 2013;36:239-43.
    • (2013) J Alzheimers Dis , vol.36 , pp. 239-243
    • Mahoney, C.J.1    Downey, L.E.2    Beck, J.3    Liang, Y.4    Mead, S.5    Perry, R.J.6
  • 99
    • 84876461895 scopus 로고    scopus 로고
    • Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia
    • Braga-Neto P, Pedroso JL, Alessi H, de Souza PV, Bertolucci PH, Barsottini OG. Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia. J Neurol. 2013;260(4):1177-9.
    • (2013) J Neurol. , vol.260 , Issue.4 , pp. 1177-1179
    • Braga-Neto, P.1    Pedroso, J.L.2    Alessi, H.3    De Souza, P.V.4    Bertolucci, P.H.5    Barsottini, O.G.6
  • 100
  • 102
    • 0036194338 scopus 로고    scopus 로고
    • A Presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch
    • Amtul Z, Lewis PA, Piper S, Crook R, Baker M, Findlay K, et al. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol Dis. 2002;9(2):269-73.
    • (2002) Neurobiol Dis. , vol.9 , Issue.2 , pp. 269-273
    • Amtul, Z.1    Lewis, P.A.2    Piper, S.3    Crook, R.4    Baker, M.5    Findlay, K.6
  • 103
    • 33750596714 scopus 로고    scopus 로고
    • Mutations in progranulin explain atypical phenotypes with variants in MAPT
    • Pickering-Brown SM, Baker M, Gass J, Boeve BF, Loy CT, Brooks WS, et al. Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain. 2006;129(Pt 11): 3124-6.
    • (2006) Brain , vol.129 , pp. 3124-3126
    • Pickering-Brown, S.M.1    Baker, M.2    Gass, J.3    Boeve, B.F.4    Loy, C.T.5    Brooks, W.S.6
  • 104
    • 78449287185 scopus 로고    scopus 로고
    • Gamma-secretase gene mutations in familialacne inversa
    • Wang B, Yang W, Wen W, Sun J, Su B, Liu B, et al. Gamma-secretase gene mutations in familialacne inversa. Science. 2010;330(6007):1065.
    • (2010) Science , vol.330 , Issue.6007 , pp. 1065
    • Wang, B.1    Yang, W.2    Wen, W.3    Sun, J.4    Su, B.5    Liu, B.6
  • 105
    • 0000792598 scopus 로고    scopus 로고
    • The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation
    • Kimberly WT, Xia W, Rahmati T, Wolfe MS, Selkoe DJ. The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation. J Biol Chem. 2000;275(5):3173-8.
    • (2000) J Biol Chem. , vol.275 , Issue.5 , pp. 3173-3178
    • Kimberly, W.T.1    Xia, W.2    Rahmati, T.3    Wolfe, M.S.4    Selkoe, D.J.5
  • 106
    • 78650807057 scopus 로고    scopus 로고
    • Presenilin 2 is the predominant gamma-secretase in microglia and modulates cytokine release
    • Jayadev S, Case A, Eastman AJ, Nguyen H, Pollak J, Wiley JC, et al. Presenilin 2 is the predominant gamma-secretase in microglia and modulates cytokine release. PLoS One. 2010;5(12):e15743.
    • (2010) PLoS One. , vol.5 , Issue.12 , pp. e15743
    • Jayadev, S.1    Case, A.2    Eastman, A.J.3    Nguyen, H.4    Pollak, J.5    Wiley, J.C.6
  • 107
    • 0030761059 scopus 로고    scopus 로고
    • Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation
    • Li J, Xu M, Zhou H, Ma J, Potter H. Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell. 1997;90(5):917-27.
    • (1997) Cell , vol.90 , Issue.5 , pp. 917-927
    • Li, J.1    Xu, M.2    Zhou, H.3    Ma, J.4    Potter, H.5
  • 108
    • 0030499031 scopus 로고    scopus 로고
    • Wide range in age of onset for chromosome 1-related familial Alzheimer's disease
    • Bird TD, Levy-Lahad E, Poorkaj P, Sharma V, Nemens E, Lahad A, et al. Wide range in age of onset for chromosome 1-related familial Alzheimer's disease. Ann Neurol. 1996;40(6):932-6.
    • (1996) Ann Neurol. , vol.40 , Issue.6 , pp. 932-936
    • Bird, T.D.1    Levy-Lahad, E.2    Poorkaj, P.3    Sharma, V.4    Nemens, E.5    Lahad, A.6
  • 109
    • 0032129460 scopus 로고    scopus 로고
    • A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset alzheimer's disease
    • Lao JI, Beyer K, Fernandez-Novoa L, Cacabelos R. A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset alzheimer's disease. Neurogenetics. 1998;1(4):293-6.
    • (1998) Neurogenetics , vol.1 , Issue.4 , pp. 293-296
    • Lao, J.I.1    Beyer, K.2    Fernandez-Novoa, L.3    Cacabelos, R.4
  • 110
    • 0043025496 scopus 로고    scopus 로고
    • A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early- onset alzheimer disease
    • Ezquerra M, Lleo A, Castellvi M, Queralt R, Santacruz P, Pastor P, et al. A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early- onset alzheimer disease. Arch Neurol. 2003;60(8):1149-51.
    • (2003) Arch Neurol. , vol.60 , Issue.8 , pp. 1149-1151
    • Ezquerra, M.1    Lleo, A.2    Castellvi, M.3    Queralt, R.4    Santacruz, P.5    Pastor, P.6
  • 113
    • 18344417178 scopus 로고    scopus 로고
    • Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes
    • Lippa CF, Fujiwara H, Mann DM, Giasson B, Baba M, Schmidt ML, et al. Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol. 1998;153(5):1365-70.
    • (1998) Am J Pathol. , vol.153 , Issue.5 , pp. 1365-1370
    • Lippa, C.F.1    Fujiwara, H.2    Mann, D.M.3    Giasson, B.4    Baba, M.5    Schmidt, M.L.6
  • 114
    • 77957927865 scopus 로고    scopus 로고
    • The genetics of Alzheimer disease: Back to the future
    • Bertram L, Lill CM, Tanzi RE. The genetics of Alzheimer disease: back to the future. Neuron. 2010;68(2):270-81.
    • (2010) Neuron , vol.68 , Issue.2 , pp. 270-281
    • Bertram, L.1    Lill, C.M.2    Tanzi, R.E.3
  • 115
    • 84875868918 scopus 로고    scopus 로고
    • Personal genomics for Alzheimer's disease
    • Kuwano R, Hara N. Personal genomics for Alzheimer's disease. Brain Nerve. 2013;65(3): 235-46.
    • (2013) Brain Nerve , vol.65 , Issue.3 , pp. 235-246
    • Kuwano, R.1    Hara, N.2
  • 116
    • 73149123343 scopus 로고    scopus 로고
    • Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    • Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009;106(45):19096-101.
    • (2009) Proc Natl Acad Sci U S A. , vol.106 , Issue.45 , pp. 19096-19101
    • Choi, M.1    Scholl, U.I.2    Ji, W.3    Liu, T.4    Tikhonova, I.R.5    Zumbo, P.6
  • 117
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-6.
    • (2009) Nature , vol.461 , Issue.7261 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3    Flygare, S.D.4    Bigham, A.W.5    Lee, C.6
  • 118
    • 67650064594 scopus 로고    scopus 로고
    • The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
    • Pruitt KD, Harrow J, Harte RA, Wallin C, Diekhans M, Maglott DR, et al. The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res. 2009;19(7):1316-23.
    • (2009) Genome Res. , vol.19 , Issue.7 , pp. 1316-1323
    • Pruitt, K.D.1    Harrow, J.2    Harte, R.A.3    Wallin, C.4    Diekhans, M.5    Maglott, D.R.6
  • 120
    • 84866368227 scopus 로고    scopus 로고
    • High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early- onset alzheimer disease
    • Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, et al. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early- onset alzheimer disease. Mol Psychiatry. 2012;17(9):87-9.
    • (2012) Mol Psychiatry. , vol.17 , Issue.9 , pp. 87-89
    • Pottier, C.1    Hannequin, D.2    Coutant, S.3    Rovelet-Lecrux, A.4    Wallon, D.5    Rousseau, S.6
  • 121
    • 84892819277 scopus 로고    scopus 로고
    • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
    • Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 2014;505(7484): 550-4.
    • (2014) Nature , vol.505 , Issue.7484 , pp. 550-554
    • Cruchaga, C.1    Karch, C.M.2    Jin, S.C.3    Benitez, B.A.4    Cai, Y.5    Guerreiro, R.6
  • 122
    • 78650895972 scopus 로고    scopus 로고
    • Loss-of-function variants in the genomes of healthy humans
    • MacArthur DG, Tyler-Smith C. Loss-of-function variants in the genomes of healthy humans. Hum Mol Genet. 2011;19(R2):R125-30.
    • (2011) Hum Mol Genet. , vol.19 , Issue.2 , pp. R125-R130
    • MacArthur, D.G.1    Tyler-Smith, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.