-
1
-
-
85010953298
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|