-
1
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer’s disease
-
(1995)
Nature
, vol.375
, pp. 754-760
-
-
Sherrington, R.1
Rogaev, E.I.2
Liang, Y.3
Rogaeva, E.A.4
Levesque, G.5
Ikeda, M.6
Chi, H.7
Lin, C.8
Li, G.9
Holman, K.10
Tsuda, T.11
Mar, L.12
Foncin, J.F.13
Bruni, A.C.14
Montesi, M.P.15
Sorbi, S.16
Rainero, I.17
Pinessi, L.18
Nee, L.19
Chumakov, I.20
Pollen, D.21
Brookes, A.22
Sanseau, P.23
Polinsky, R.J.24
Wasco, W.25
Da Silva, H.A.R.26
Haines, J.L.27
Pericak-Vance, M.A.28
Tanzi, R.E.29
Roses, A.D.30
Fraser, P.E.31
Rommens, J.M.32
St George-Hyslop, P.H.33
more..
-
2
-
-
0029101491
-
Familial Alzheimer’s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer’s disease type 3 gene
-
(1995)
Nature
, vol.376
, pp. 775-778
-
-
Rogaev, E.I.1
Sherrington, R.2
Rogaeva, E.A.3
Levesque, G.4
Ikeda, M.5
Liang, Y.6
Chi, H.7
Lin, C.8
Holman, K.9
Tsuda, T.10
Mar, L.11
Sorbi, S.12
Nacmias, B.13
Piacentini, S.14
Amaducci, L.15
Chumakov, I.16
Cohen, D.17
Lannfelt, L.18
Fraser, P.E.19
Rommens, J.M.20
St George-Hyslop, P.H.21
more..
-
3
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
Chartier-Harlin, M.-C.2
Mullan, M.3
Brown, J.4
Crawford, F.5
Fidani, L.6
Giuffra, L.7
Haynes, A.8
Irving, N.9
James, L.10
Mant, R.11
Newton, P.12
Rooke, K.13
Roques, P.14
Talbot, C.15
Pericak-Vance, M.16
Roses, A.17
Williamson, R.18
Rossor, M.19
Owen, M.20
Hardy, J.21
more..
-
4
-
-
0030293676
-
Familial Alzheimer’s disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo
-
(1996)
Neuron
, vol.17
, pp. 1005-1013
-
-
Borchelt, D.R.1
Thinakaran, G.2
Eckman, C.B.3
Lee, M.K.4
Davenport, F.5
Ratovitsky, T.6
Prada, C.-M.7
Kim, G.8
Seekins, S.9
Yager, D.10
Slunt, H.H.11
Wang, R.12
Seeger, M.13
Levey, A.I.14
Gandy, S.E.15
Copeland, N.G.16
Jenkins, N.A.17
Price, D.L.18
Younkin, S.G.19
Sisodia, S.S.20
more..
-
5
-
-
16044366039
-
Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1
-
(1996)
Nature
, vol.383
, pp. 710-713
-
-
Duff, K.1
Eckman, C.2
Zehr, C.3
Yu, X.4
Prada, C.-M.5
Pereztur, J.6
Hutton, M.7
Buee, L.8
Harigaya, Y.9
Yager, D.10
Morgan, D.11
Gordon, M.N.12
Holcomb, L.13
Refolo, L.14
Zenk, B.15
Hardy, J.16
Younkin, S.17
-
6
-
-
13344282063
-
Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells
-
(1996)
Nat. Med
, vol.2
, pp. 224-229
-
-
Kovacs, D.M.1
Fausett, H.J.2
Page, K.J.3
Kim, T.W.4
Moir, R.D.5
Merriam, D.E.6
Hollister, R.D.7
Hallmark, O.G.8
Mancini, R.9
Felsenstein, K.M.10
Hyman, B.T.11
Tanzi, R.E.12
Wasco, W.13
-
7
-
-
16044373524
-
Secreted amyloid β-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
-
(1996)
Nat. Med
, vol.2
, pp. 864-870
-
-
Scheuner, D.1
Eckman, C.2
Jensen, M.3
Song, X.4
Citron, M.5
Suzuki, N.6
Bird, T.D.7
Hardy, J.8
Hutton, M.9
Kukull, W.10
Larson, E.11
Levy-Lahad, E.12
Viitanen, M.13
Peskind, E.14
Poorkaj, P.15
Schellenberg, G.16
Tanzi, R.17
Wasco, W.18
Lannfelt, L.19
Selkoe, D.20
Younkin, S.21
more..
-
8
-
-
16944362157
-
Mutant presenilins of Alzheimer’s disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
-
(1997)
Nat. Med
, vol.3
, pp. 67-72
-
-
Citron, M.1
Westaway, D.2
Xia, W.3
Carlson, G.4
Diehl, T.5
Levesque, G.6
Johnson-Wood, K.7
Lee, M.8
Seubert, P.9
Davis, A.10
Kholodenko, D.11
Motter, R.12
Sherrington, R.13
Perry, B.14
Yao, H.15
Strome, R.16
Lieberburg, I.17
Rommens, J.18
Kim, S.19
Schenk, D.20
Fraser, P.21
St George-Hyslop, P.22
Selkoe, D.J.23
more..
-
9
-
-
0032556859
-
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
-
(1998)
Nature
, vol.391
, pp. 387-390
-
-
De Strooper, B.1
Saftig, P.2
Craessaerts, K.3
Vanderstichele, H.4
Guhde, G.5
Annaert, W.6
Von Figura, K.7
Van Leuven, F.8
-
10
-
-
0033535504
-
A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain
-
(1999)
Nature
, vol.398
, pp. 518-522
-
-
De Strooper, B.1
Annaert, W.2
Cupers, P.3
Saftig, P.4
Craessaerts, K.5
Mumm, J.S.6
Schroeter, E.H.7
Schrijvers, V.8
Wolfe, M.S.9
Ray, W.J.10
Goate, A.11
Kopan, R.12
-
12
-
-
0033780472
-
Transition-state analogue inhibitors of γ-secretase bind directly to presenilin-1
-
(2000)
Nat. Cell Biol
, vol.2
, pp. 428-434
-
-
Esler, W.P.1
Kimberly, W.T.2
Ostaszewski, B.L.3
Diehl, T.S.4
Moore, C.L.5
Tsai, J.-Y.6
Rahmati, T.7
Xia, W.8
Selkoe, D.J.9
Wolfe, M.S.10
-
13
-
-
0034621824
-
Photoactivated γ-secretase inhibitors directed to the active site covalently label presenilin 1
-
(2000)
Nature
, vol.405
, pp. 689-694
-
-
Li, Y.-M.1
Xu, M.2
Lai, M.-T.3
Huang, Q.4
Castro, J.L.5
DiMuzio-Mower, J.6
Harrison, T.7
Lellis, C.8
Nadin, A.9
Neduvelil, J.G.10
Register, R.B.11
Sardana, M.K.12
Shearman, M.S.13
Smith, A.L.14
Shi, X.-P.15
Yin, K.-C.16
Shafer, J.A.17
Gardell, S.J.18
-
14
-
-
0032905727
-
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of β-catenin, a component of the presenilin protein complex
-
(1999)
Nat. Med
, vol.5
, pp. 164-169
-
-
Nishimura, M.1
Yu, G.2
Levesque, G.3
Zhang, D.M.4
Ruel, L.5
Chen, F.6
Milman, P.7
Holmes, E.8
Liang, Y.9
Kawarai, T.10
Jo, E.11
Supala, A.12
Rogaeva, E.13
Xu, D.-M.14
Janus, C.15
Levesque, L.16
Bi, Q.17
Duthie, M.18
Rozmahel, R.19
Mattila, K.20
Lannfelt, L.21
Westaway, D.22
Mount, H.T.J.23
Woodgett, J.24
Fraser, P.E.25
St George-Hyslop, P.26
more..
-
15
-
-
0034618715
-
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and 3APP processing
-
(2000)
Nature
, vol.407
, pp. 48-54
-
-
Yu, G.1
Nishimura, M.2
Arawaka, S.3
Levitan, D.4
Zhang, L.5
Tandon, A.6
Song, Y.Q.7
Rogaeva, E.8
Chen, F.9
Kawarai, T.10
Supala, A.11
Levesque, L.12
Yu, H.13
Yang, D.S.14
Holmes, E.15
Milman, P.16
Liang, Y.17
Zhang, D.M.18
Xu, D.H.19
Sato, C.20
Rogaev, E.21
Smith, M.22
Janus, C.23
Zhang, Y.24
Aebersold, R.25
Farrer, L.26
Sorbi, S.27
Bruni, A.28
Fraser, P.29
St George-Hyslop, P.30
more..
-
17
-
-
0033599561
-
Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer’s brains
-
(1999)
Biochem. Biophys. Res. Commun
, vol.256
, pp. 512-518
-
-
Tomidokoro, Y.1
Ishiguro, K.2
Igeta, Y.3
Matsubara, E.4
Kanai, M.5
Shizuka, M.6
Kawarabayashi, T.7
Harigaya, Y.8
Kawakatsu, S.9
Ii, K.10
Ikeda, M.11
St George-Hyslop, P.H.12
Hirai, S.13
Okamoto, K.14
Shoji, M.15
-
18
-
-
17944376442
-
APP processing and synaptic plasticity in presenilin-1 conditional knockout mice
-
(2001)
Neuron
, vol.31
, pp. 713-726
-
-
Yu, H.1
Saura, C.A.2
Choi, S.Y.3
Sun, L.D.4
Yang, X.5
Handler, M.6
Kawarabayashi, T.7
Younkin, L.8
Fedeles, B.9
Wilson, M.A.10
Younkin, S.11
Kandel, E.R.12
Kirkwood, A.13
Shen, J.14
-
19
-
-
0030776583
-
Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer’s disease with or without PS-1 mutations
-
(1997)
FEBS Lett
, vol.418
, pp. 162-166
-
-
Okochi, M.1
Ishii, K.2
Usami, M.3
Sahara, N.4
Kametani, F.5
Tanaka, K.6
Fraser, P.E.7
Ikeda, M.8
Saunders, A.M.9
Hendriks, L.10
Shoji, S.-I.11
Nee, L.E.12
Martin, J.-J.13
Van Broeckhoven, C.14
St George-Hyslop, P.H.15
Roses, A.D.16
Mori, H.17
-
20
-
-
0030067010
-
Intracellular generation of amyloid β-protein from amyloid β-protein precursor fragment by direct cleavage with β- and γ-secretase
-
(1996)
Biochem. Biophys. Res. Commun
, vol.218
, pp. 238-242
-
-
Iizuka, T.1
Shoji, M.2
Kawarabayashi, T.3
Sato, M.4
Kobayashi, T.5
Tada, N.6
Kasai, K.7
Matsubara, E.8
Watanabe, M.9
Tomidokoro, Y.10
Hirai, S.11
-
21
-
-
0028322017
-
717) mutants
-
(1994)
Science
, vol.264
, pp. 1336-1340
-
-
Suzuki, N.1
Cheung, T.T.2
Cai, X.-D.3
Odaka, A.4
Otvos, L.5
Eckman, C.6
Golde, T.E.7
Younkin, S.G.8
-
22
-
-
0032946019
-
Lipoprotein-free amyloidogenic peptides in plasma are elevated in patients with sporadic Alzheimer’s disease and Down’s syndrome
-
(1999)
Ann. Neurol
, vol.45
, pp. 537-541
-
-
Matsubara, E.1
Ghiso, J.2
Frangione, B.3
Amari, M.4
Tomidokoro, Y.5
Ikeda, Y.6
Harigaya, Y.7
Okamoto, K.8
Shoji, M.9
-
23
-
-
0029742199
-
Correlative memory deficits Aβ elevation, and amyloid plaques in transgenic mice
-
(1996)
Science
, vol.274
, pp. 99-102
-
-
Hsiao, K.1
Chapman, P.2
Nilsen, S.3
Eckman, C.4
Harigaya, Y.5
Younkin, S.6
Yang, F.7
Cole, G.8
-
24
-
-
0031914718
-
Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes
-
(1998)
Nat. Med
, vol.4
, pp. 97-100
-
-
Holcomb, L.1
Gordon, M.N.2
McGowan, E.3
Yu, X.4
Benkovic, S.5
Jantzen, P.6
Wright, K.7
Saad, I.8
Mueller, R.9
Morgan, D.10
Sanders, S.11
Zehr, C.12
O’Campo, K.13
Hardy, J.14
Prada, C.-M.15
Eckman, C.16
Younkin, S.17
Hsiao, K.18
Duff, K.19
-
26
-
-
0034711207
-
Carboxyl-terminal fragments of Alzheimer β-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in prese-nilin 1-deficient cells
-
(2000)
J. Biol. Chem
, vol.275
, pp. 36794-36802
-
-
Chen, F.1
Yang, D.-S.2
Petanceska, S.3
Yang, A.4
Tandon, A.5
Yu, G.6
Rozmahel, R.7
Ghiso, J.8
Nishimura, M.9
Zhang, D.M.10
Kawarai, T.11
Levesque, G.12
Mills, J.13
Levesque, L.14
Song, Y.-Q.15
Rogaeva, E.16
Westaway, D.17
Mount, H.18
Gandy, S.19
St George-Hyslop, P.20
Fraser, P.E.21
more..
-
27
-
-
0343819757
-
Presenilin 1 is linked with γ-secretase activity in the detergent solubilized state
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 6138-6143
-
-
Li, Y.-M.1
Lai, M.-T.2
Xu, M.3
Huang, Q.4
DiMuzio-Mower, J.5
Sardana, M.K.6
Shi, X.-P.7
Yin, K.-C.8
Shafer, J.A.9
Gardell, S.J.10
-
28
-
-
0032488995
-
The proteolytic fragments of the Alzheimer’s disease-associated presenilin-1 form heterodimers and occur as a 100-150-kDa molecular mass complex
-
(1998)
J. Biol. Chem
, vol.273
, pp. 3205-3211
-
-
Capell, A.1
Grünberg, J.2
Pesold, B.3
Diehlmann, A.4
Citron, M.5
Nixon, R.6
Beyreuther, K.7
Selkoe, D.J.8
Haass, C.9
-
29
-
-
8044231311
-
The Alzheimer’s disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum
-
(1996)
Mol. Med
, vol.2
, pp. 673-691
-
-
Walter, J.1
Capell, A.2
Grünberg, J.3
Pesold, B.4
Schindzielorz, A.5
Prior, R.6
Podlisny, M.B.7
Fraser, P.8
St George-Hyslop, P.9
Selkoe, D.J.10
Haass, C.11
-
31
-
-
0032564388
-
Presenilin 1 regulates the processing of β-amyloid precursor protein C-terminal fragments and the generation of amyloid 3-protein in endoplasmic reticulum and Golgi
-
(1998)
Biochemistry
, vol.37
, pp. 16465-16471
-
-
Xia, W.1
Zhang, J.2
Ostaszewski, B.L.3
Kimberly, W.T.4
Seubert, P.5
Koo, E.H.6
Shen, J.7
Selkoe, D.J.8
-
33
-
-
0032568821
-
The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains β-catenin
-
(1998)
J. Biol. Chem
, vol.273
, pp. 16470-16475
-
-
Yu, G.1
Chen, F.2
Levesque, G.3
Nishimura, M.4
Zhang, D.-M.5
Levesque, L.6
Rogaeva, E.7
Xu, D.8
Liang, Y.9
Duthie, M.10
St George-Hyslop, P.H.11
Fraser, P.E.12
-
34
-
-
0034255029
-
Presenilin complexes with the C-terminal fragments of amyloid precursor protein at the sites of amyloid β-protein generation
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 9299-9304
-
-
Xia, W.1
Ray, W.J.2
Ostaszewski, B.L.3
Rahmati, T.4
Kimberly, W.T.5
Wolfe, M.S.6
Zhang, J.7
Goate, A.M.8
Selkoe, D.J.9
|