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Volumn 114, Issue 4, 2017, Pages 629-631

Presenilin-1 mutations and Alzheimer's disease

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; GAMMA SECRETASE; PRESENILIN 1; AMYLOID PRECURSOR PROTEIN; PRESENILIN 2;

EID: 85010689252     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1619574114     Document Type: Note
Times cited : (162)

References (20)
  • 1
    • 85010953298 scopus 로고    scopus 로고
    • Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase
    • Sun L, Zhou R, Yang G, Shi Y (2017) Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. Proc Natl Acad Sci USA 114:E476-E485.
    • (2017) Proc Natl Acad Sci USA , vol.114 , pp. E476-E485
    • Sun, L.1    Zhou, R.2    Yang, G.3    Shi, Y.4
  • 2
    • 0037135111 scopus 로고    scopus 로고
    • The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics
    • Hardy J, Selkoe DJ (2002) The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science 297(5580):353-356.
    • (2002) Science , vol.297 , Issue.5580 , pp. 353-356
    • Hardy, J.1    Selkoe, D.J.2
  • 3
    • 33846282302 scopus 로고    scopus 로고
    • The presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanism
    • Shen J, Kelleher RJ, 3rd (2007) The presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanism. Proc Natl Acad Sci USA 104(2):403-409.
    • (2007) Proc Natl Acad Sci USA , vol.104 , Issue.2 , pp. 403-409
    • Shen, J.1    Kelleher, R.J.2
  • 4
    • 16044366039 scopus 로고    scopus 로고
    • Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1
    • Duff K, et al. (1996) Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1. Nature 383(6602):710-713.
    • (1996) Nature , vol.383 , Issue.6602 , pp. 710-713
    • Duff, K.1
  • 5
    • 16044373524 scopus 로고    scopus 로고
    • Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
    • Scheuner D, et al. (1996) Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 2(8):864-870.
    • (1996) Nat Med , vol.2 , Issue.8 , pp. 864-870
    • Scheuner, D.1
  • 6
    • 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, et al. (1996) Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo. Neuron 17(5):1005-1013.
    • (1996) Neuron , vol.17 , Issue.5 , pp. 1005-1013
    • Borchelt, D.R.1
  • 7
    • 84963520567 scopus 로고    scopus 로고
    • The amyloid hypothesis of Alzheimer's disease at 25 years
    • Selkoe DJ, Hardy J (2016) The amyloid hypothesis of Alzheimer's disease at 25 years. EMBO Mol Med 8(6):595-608.
    • (2016) EMBO Mol Med , vol.8 , Issue.6 , pp. 595-608
    • Selkoe, D.J.1    Hardy, J.2
  • 8
    • 11144354609 scopus 로고    scopus 로고
    • Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration
    • Saura CA, et al. (2004) Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron 42(1):23-36.
    • (2004) Neuron , vol.42 , Issue.1 , pp. 23-36
    • Saura, C.A.1
  • 9
    • 77956322371 scopus 로고    scopus 로고
    • Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice
    • Wines-Samuelson M, et al. (2010) Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice. PLoS One 5(4):e10195.
    • (2010) PLoS One , vol.5 , Issue.4
    • Wines-Samuelson, M.1
  • 10
    • 84859520482 scopus 로고    scopus 로고
    • Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice
    • Watanabe H, Xia D, Kanekiyo T, Kelleher RJ, 3rd, Shen J (2012) Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice. J Neurosci 32(15):5085-5096.
    • (2012) J Neurosci , vol.32 , Issue.15 , pp. 5085-5096
    • Watanabe, H.1    Xia, D.2    Kanekiyo, T.3    Kelleher, R.J.4    Shen, J.5
  • 11
    • 77954602182 scopus 로고    scopus 로고
    • Apresenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity
    • Heilig EA, Xia W, Shen J, Kelleher RJ, 3rd (2010) Apresenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. J Biol Chem 285(29):22350-22359.
    • (2010) J Biol Chem , vol.285 , Issue.29 , pp. 22350-22359
    • Heilig, E.A.1    Xia, W.2    Shen, J.3    Kelleher, R.J.4
  • 12
    • 84880442012 scopus 로고    scopus 로고
    • Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production
    • Heilig EA, Gutti U, Tai T, Shen J, Kelleher RJ, 3rd (2013) Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. J Neurosci 33(28):11606-11617.
    • (2013) J Neurosci , vol.33 , Issue.28 , pp. 11606-11617
    • Heilig, E.A.1    Gutti, U.2    Tai, T.3    Shen, J.4    Kelleher, R.J.5
  • 13
    • 84924262484 scopus 로고    scopus 로고
    • Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease
    • Xia D, et al. (2015) Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. Neuron 85(5):967-981.
    • (2015) Neuron , vol.85 , Issue.5 , pp. 967-981
    • Xia, D.1
  • 14
    • 84963768320 scopus 로고    scopus 로고
    • Loss of Aβ43 production caused by presenilin-1 mutations in the knockin mouse brain
    • Xia D, Kelleher RJ, 3rd, Shen J (2016) Loss of Aβ43 production caused by presenilin-1 mutations in the knockin mouse brain. Neuron 90(2):417-422.
    • (2016) Neuron , vol.90 , Issue.2 , pp. 417-422
    • Xia, D.1    Kelleher, R.J.2    Shen, J.3
  • 15
    • 84941254172 scopus 로고    scopus 로고
    • An atomic structure of human γ-secretase
    • Bai XC, et al. (2015) An atomic structure of human γ-secretase. Nature 525(7568):212-217.
    • (2015) Nature , vol.525 , Issue.7568 , pp. 212-217
    • Bai, X.C.1
  • 16
    • 0041865226 scopus 로고    scopus 로고
    • Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred
    • Pastor P, et al. (2003) Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. Ann Neurol 54(2):163-169.
    • (2003) Ann Neurol , vol.54 , Issue.2 , pp. 163-169
    • Pastor, P.1
  • 17
    • 84955240116 scopus 로고    scopus 로고
    • APOE∗E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease
    • Vélez JI, et al. (2016) APOE∗E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease. Mol Psychiatry 21(7):916-924.
    • (2016) Mol Psychiatry , vol.21 , Issue.7 , pp. 916-924
    • Vélez, J.I.1
  • 18
    • 84905868699 scopus 로고    scopus 로고
    • Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis
    • Ryman DC, et al.; Dominantly Inherited Alzheimer Network (2014) Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis. Neurology 83(3):253-260.
    • (2014) Neurology , vol.83 , Issue.3 , pp. 253-260
    • Ryman, D.C.1
  • 19
    • 33947242870 scopus 로고    scopus 로고
    • When loss is gain: Reduced presenilin proteolytic function leads to increased Aβ42/Aβ40. Talking Point on the role of presenilin mutations in Alzheimer disease
    • Wolfe MS (2007) When loss is gain: Reduced presenilin proteolytic function leads to increased Aβ42/Aβ40. Talking Point on the role of presenilin mutations in Alzheimer disease. EMBO Rep 8(2):136-140.
    • (2007) EMBO Rep , vol.8 , Issue.2 , pp. 136-140
    • Wolfe, M.S.1
  • 20
    • 84862026249 scopus 로고    scopus 로고
    • Conditional deletion of Notch1 and Notch2 genes in excitatory neurons of postnatal forebrain does not cause neurodegeneration or reduction of Notch mRNAs and proteins
    • Zheng J, et al. (2012) Conditional deletion of Notch1 and Notch2 genes in excitatory neurons of postnatal forebrain does not cause neurodegeneration or reduction of Notch mRNAs and proteins. J Biol Chem 287(24):20356-20368.
    • (2012) J Biol Chem , vol.287 , Issue.24 , pp. 20356-20368
    • Zheng, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.