-
1
-
-
0025179972
-
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder
-
St George-Hyslop P.H., Haines J.L., Farrer L.A., Polinsky R., VanBroeckhoven C., Goate A., Crapper McLachlan D.R., Orr H., Bruni A.C., Sorbi S., Rainero I., Foncin J.-F., Pollen D., Cantu J.-M., Tupler R., Voskresenskaya N., Mayeux R., Growdon J., Fried V.A., Myers R.H., Nee L., Backhovens H., Martin J.-J., Rossor M., Owen M.J., Mullan M., Percy M.E., Karlinsky H., Rich S., Heston L., Montesi M., Mortilla M., Nacmias N., Gusella J.F., Hardy J.A. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature. 347:1990;194-197.
-
(1990)
Nature
, vol.347
, pp. 194-197
-
-
St George-Hyslop, P.H.1
Haines, J.L.2
Farrer, L.A.3
Polinsky, R.4
Vanbroeckhoven, C.5
Goate, A.6
Crapper McLachlan, D.R.7
Orr, H.8
Bruni, A.C.9
Sorbi, S.10
Rainero, I.11
Foncin, J.-F.12
Pollen, D.13
Cantu, J.-M.14
Tupler, R.15
Voskresenskaya, N.16
Mayeux, R.17
Growdon, J.18
Fried, V.A.19
Myers, R.H.20
Nee, L.21
Backhovens, H.22
Martin, J.-J.23
Rossor, M.24
Owen, M.J.25
Mullan, M.26
Percy, M.E.27
Karlinsky, H.28
Rich, S.29
Heston, L.30
Montesi, M.31
Mortilla, M.32
Nacmias, N.33
Gusella, J.F.34
Hardy, J.A.35
more..
-
2
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
-
Sherrington R., Rogaev E.I., Liang Y., Rogaeva E.A., Levesque G., Ikeda M., Chi H., Lin C., Li G., Holman K., Tsuda T., Mar L., Foncin J.-F., Bruni A.C., Montesi M.P., Sorbi S., Rainero I., Piness L., Nee L., Chumakov Y., Pollen D., Tanzi R.E., Haines J.L., Wasco W., Da Silva R., Pericak-Vance M.A., Roses A.D., Fraser P.E., Rommens J., St George-Hyslop P. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 375:1995;754-760.
-
(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
Piness, L.18
Nee, L.19
Chumakov, Y.20
Pollen, D.21
Tanzi, R.E.22
Haines, J.L.23
Wasco, W.24
Da Silva, R.25
Pericak-Vance, M.A.26
Roses, A.D.27
Fraser, P.E.28
Rommens, J.29
St George-Hyslop, P.30
more..
-
3
-
-
0029116848
-
Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene
-
Levitan D., Greenwald I. Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature. 377:1995;351-354.
-
(1995)
Nature
, vol.377
, pp. 351-354
-
-
Levitan, D.1
Greenwald, I.2
-
4
-
-
10544229795
-
Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues
-
Lee M.K., Slunt H.H., Martin L.J., Thinakaran G., Kim G., Gandy S.E., Seeger M., Koo E., Price D.L., Sisodia S.S. Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues. J. Neurosci. 16:1996;7513-7525.
-
(1996)
J. Neurosci.
, vol.16
, pp. 7513-7525
-
-
Lee, M.K.1
Slunt, H.H.2
Martin, L.J.3
Thinakaran, G.4
Kim, G.5
Gandy, S.E.6
Seeger, M.7
Koo, E.8
Price, D.L.9
Sisodia, S.S.10
-
5
-
-
15444341611
-
Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins
-
De Strooper B., Beullens M., Contreras B., Levesque L., Craessaerts K., Cordell B., Moechars D., Bollen M., Fraser P., George-Hyslop P.S., Van Leuven F. Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins. J. Biol. Chem. 272:1997;3590-3598.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 3590-3598
-
-
De Strooper, B.1
Beullens, M.2
Contreras, B.3
Levesque, L.4
Craessaerts, K.5
Cordell, B.6
Moechars, D.7
Bollen, M.8
Fraser, P.9
George-Hyslop, P.S.10
Van Leuven, F.11
-
6
-
-
0040510921
-
Developmental expression of wild-type and mutant presenilin 1 in hippocampal neurons from transgenic mice
-
Lévesque L., Annaert W., Craessaets K., Mathews P., Seeger M., Nixon R.A., Gandy S., Westaway D., Van Leuven F., St George-Hyslop P., De Strooper B., Fraser P.E. Developmental expression of wild-type and mutant presenilin 1 in hippocampal neurons from transgenic mice. Mol. Med. 5:1999;542-554.
-
(1999)
Mol. Med.
, vol.5
, pp. 542-554
-
-
Lévesque, L.1
Annaert, W.2
Craessaets, K.3
Mathews, P.4
Seeger, M.5
Nixon, R.A.6
Gandy, S.7
Westaway, D.8
Van Leuven, F.9
St George-Hyslop, P.10
De Strooper, B.11
Fraser, P.E.12
-
7
-
-
0030657665
-
Cellular expression and proteolytic processing of presenilin proteins is developmentally regulated during neuronal differentiation
-
Capell A., Saffrich R., Olivo J.C., Meyn L., Walter J., Grunberg J., Mathews P., Nixon R., Dotti C., Haass C. Cellular expression and proteolytic processing of presenilin proteins is developmentally regulated during neuronal differentiation. J. Neurochem. 69:1997;2432-2440.
-
(1997)
J. Neurochem.
, vol.69
, pp. 2432-2440
-
-
Capell, A.1
Saffrich, R.2
Olivo, J.C.3
Meyn, L.4
Walter, J.5
Grunberg, J.6
Mathews, P.7
Nixon, R.8
Dotti, C.9
Haass, C.10
-
8
-
-
0033026550
-
Proteolytic fragments of Alzheimer's disease-associated presenilin 1 are present in synaptic organelles and growth cone membranes of rat brain
-
Beher D., Elle C., Underwood J., Davis J.B., Ward R., Karran E., Masters C.L., Beyreuther K., Multhaup G. Proteolytic fragments of Alzheimer's disease-associated presenilin 1 are present in synaptic organelles and growth cone membranes of rat brain. J. Neurochem. 72:1999;1564-1573.
-
(1999)
J. Neurochem.
, vol.72
, pp. 1564-1573
-
-
Beher, D.1
Elle, C.2
Underwood, J.3
Davis, J.B.4
Ward, R.5
Karran, E.6
Masters, C.L.7
Beyreuther, K.8
Multhaup, G.9
-
9
-
-
0032568821
-
The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains β-catenin
-
Yu G., Chen F., Levesque G., Nishimura M., Zhang D.M., Levesque L., Rogaeva E., Xu D., Liang Y., Duthie M., St George-Hyslop P.H., Fraser P.E. The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains β-catenin. J. Biol. Chem. 273:1998;16470-16475.
-
(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
-
10
-
-
0033579505
-
Cell surface presenilin-1 participates in the γ-secretase-like proteolysis of Notch
-
Ray W.J., Yao M., Mumm J., Schroeter E.H., Saftig P., Wolfe M., Selkoe D.J., Kopan R., Goate A.M. Cell surface presenilin-1 participates in the γ-secretase-like proteolysis of Notch. J. Biol. Chem. 274:1999;36801-36807.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 36801-36807
-
-
Ray, W.J.1
Yao, M.2
Mumm, J.3
Schroeter, E.H.4
Saftig, P.5
Wolfe, M.6
Selkoe, D.J.7
Kopan, R.8
Goate, A.M.9
-
11
-
-
6844255860
-
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer's disease
-
Cruts M., van Duijn C.M., Backhovens H., Van den Broeck M., Wehnert A., Serneels S., Sherrington R., Hutton M., Hardy J., St George-Hyslop P.H., Hofman A., Van Broeckhoven C. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer's disease. Hum. Mol. Genet. 7:1998;43-45.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 43-45
-
-
Cruts, M.1
Van Duijn, C.M.2
Backhovens, H.3
Van Den Broeck, M.4
Wehnert, A.5
Serneels, S.6
Sherrington, R.7
Hutton, M.8
Hardy, J.9
St George-Hyslop, P.H.10
Hofman, A.11
Van Broeckhoven, C.12
-
12
-
-
0028812820
-
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
-
Campion D., Flaman J.M., Brice A., Hannequin D., Dubois B., Martin C., Moreau V., Charbonnier F., Didierjean O., Tardieu S., Penet C., Puel M., Pasquier F., Ledoze F., Bellis G., Calenda A., Heilig R., Martinez M., Mallet J., Bellis M., Clergetdarpoux F., Agid Y., Frebourg T. Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Hum. Mol. Genet. 4:1995;2373-2377.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2373-2377
-
-
Campion, D.1
Flaman, J.M.2
Brice, A.3
Hannequin, D.4
Dubois, B.5
Martin, C.6
Moreau, V.7
Charbonnier, F.8
Didierjean, O.9
Tardieu, S.10
Penet, C.11
Puel, M.12
Pasquier, F.13
Ledoze, F.14
Bellis, G.15
Calenda, A.16
Heilig, R.17
Martinez, M.18
Mallet, J.19
Bellis, M.20
Clergetdarpoux, F.21
Agid, Y.22
Frebourg, T.23
more..
-
13
-
-
0029968528
-
Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families
-
Kamino K., Sato S., Sakaki Y., Yoshiiwa A., Nishiwaki Y., Takeda M., Tanabe H., Nishimura T., Ii K., St George-Hyslop P.H., Miki T., Ogihara T. Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. Neurosci. Lett. 208:1996;195-198.
-
(1996)
Neurosci. Lett.
, vol.208
, pp. 195-198
-
-
Kamino, K.1
Sato, S.2
Sakaki, Y.3
Yoshiiwa, A.4
Nishiwaki, Y.5
Takeda, M.6
Tanabe, H.7
Nishimura, T.8
Ii, K.9
St George-Hyslop, P.H.10
Miki, T.11
Ogihara, T.12
-
14
-
-
0032854745
-
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion
-
De Jonghe C., Cruts M., Rogaeva E.A., Tysoe C., Singleton A., Vanderstichele H., Meschino W., Dermaut B., Vanderhoeven I., Backhovens H., Vanmechelen E., Morris C.M., Hardy J., Rubinsztein D.C., St George-Hyslop P.H., Van Broeckhoven C. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum. Mol. Genet. 8:1999;1529-1540.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1529-1540
-
-
De Jonghe, C.1
Cruts, M.2
Rogaeva, E.A.3
Tysoe, C.4
Singleton, A.5
Vanderstichele, H.6
Meschino, W.7
Dermaut, B.8
Vanderhoeven, I.9
Backhovens, H.10
Vanmechelen, E.11
Morris, C.M.12
Hardy, J.13
Rubinsztein, D.C.14
St George-Hyslop, P.H.15
Van Broeckhoven, C.16
-
15
-
-
0007486598
-
A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease
-
Romero I., Jorgensen P., Bolwig G., Fraser P.E., Rogaeva E., Mann D., Havsager A.M., Jorgensen A.L. A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease. NeuroReport. 10:1999;2255-2260.
-
(1999)
NeuroReport
, vol.10
, pp. 2255-2260
-
-
Romero, I.1
Jorgensen, P.2
Bolwig, G.3
Fraser, P.E.4
Rogaeva, E.5
Mann, D.6
Havsager, A.M.7
Jorgensen, A.L.8
-
16
-
-
0031690109
-
Cell-type-specific enhancement of amyloid-beta deposition in a novel presenilin-1 mutation (P117L)
-
Wegiel J., Wisniewski H.M., Kuchna I., Tarnawski M., Badmajew E., Popovitch E., Kulczycki J., Dowjat W.K., Wisniewski T. Cell-type-specific enhancement of amyloid-beta deposition in a novel presenilin-1 mutation (P117L). J. Neuropathol. Exp. Neurol. 57:1998;831-838.
-
(1998)
J. Neuropathol. Exp. Neurol.
, vol.57
, pp. 831-838
-
-
Wegiel, J.1
Wisniewski, H.M.2
Kuchna, I.3
Tarnawski, M.4
Badmajew, E.5
Popovitch, E.6
Kulczycki, J.7
Dowjat, W.K.8
Wisniewski, T.9
-
17
-
-
0029911433
-
A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis
-
Reznik-Wolf H., Treves T.A., Davidson M., Aharon-Peretz J., St. George Hyslop P.H., Chapman J., Korczyn A.D., Goldman B., Friedman E. A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis. Hum. Genet. 98:1996;700-702.
-
(1996)
Hum. Genet.
, vol.98
, pp. 700-702
-
-
Reznik-Wolf, H.1
Treves, T.A.2
Davidson, M.3
Aharon-Peretz, J.4
St. George Hyslop, P.H.5
Chapman, J.6
Korczyn, A.D.7
Goldman, B.8
Friedman, E.9
-
18
-
-
13144250191
-
Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer's disease using denaturing gradient gel electrophoresis (DGGE)
-
Reznik-Wolf H., Treves T.A., Shabtai H., Aharon-Peretz J., Chapman J., Davidson M., Barkai G., Hyslop P.H., Goldman B., Korczyn A.D., Friedman E. Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer's disease using denaturing gradient gel electrophoresis (DGGE). Eur. J. Hum. Genet. 6:1998;176-180.
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 176-180
-
-
Reznik-Wolf, H.1
Treves, T.A.2
Shabtai, H.3
Aharon-Peretz, J.4
Chapman, J.5
Davidson, M.6
Barkai, G.7
Hyslop, P.H.8
Goldman, B.9
Korczyn, A.D.10
Friedman, E.11
-
19
-
-
6844258883
-
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
-
Poorkaj P., Sharma V., Anderson L., Nemens E., Alonso M.E., Orr H., White J., Heston L., Bird T.D., Schellenberg G.D. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum. Mutat. 11:1998;216-221.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 216-221
-
-
Poorkaj, P.1
Sharma, V.2
Anderson, L.3
Nemens, E.4
Alonso, M.E.5
Orr, H.6
White, J.7
Heston, L.8
Bird, T.D.9
Schellenberg, G.D.10
-
20
-
-
0032957648
-
A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2
-
Yasuda M., Maeda K., Hashimoto M., Yamashita H., Ikejiri Y., Bird T.D., Tanaka C., Schellenberg G.D. A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2. Arch. Neurol. 56:1999;65-69.
-
(1999)
Arch. Neurol.
, vol.56
, pp. 65-69
-
-
Yasuda, M.1
Maeda, K.2
Hashimoto, M.3
Yamashita, H.4
Ikejiri, Y.5
Bird, T.D.6
Tanaka, C.7
Schellenberg, G.D.8
-
21
-
-
0030848149
-
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation
-
Crook R., Ellis R., Shanks M., Thal L.J., Perez-Tur J., Baker M., Hutton M., Haltia T., Hardy J., Galasko D. Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. Ann. Neurol. 42:1997;124-128.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 124-128
-
-
Crook, R.1
Ellis, R.2
Shanks, M.3
Thal, L.J.4
Perez-Tur, J.5
Baker, M.6
Hutton, M.7
Haltia, T.8
Hardy, J.9
Galasko, D.10
-
22
-
-
17344363967
-
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases
-
Dumanchin C., Brice A., Campion D., Hannequin D., Martin C., Moreau V., Agid Y., Martinez M., Clerget-Darpoux F., Frebourg T. De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. J. Med. Genet. 35:1998;672-673.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 672-673
-
-
Dumanchin, C.1
Brice, A.2
Campion, D.3
Hannequin, D.4
Martin, C.5
Moreau, V.6
Agid, Y.7
Martinez, M.8
Clerget-Darpoux, F.9
Frebourg, T.10
-
23
-
-
0029115555
-
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
-
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat. Genet. 11:1995;219-222.
-
(1995)
Nat. Genet.
, vol.11
, pp. 219-222
-
-
-
24
-
-
0032605037
-
Pathogenic presenilin 1 mutations (P436S and I143F) in early-onset Alzheimer's disease in the UK
-
Palmer M.S., Beck J.A., Campbell T.A., Humphries C.B., Roques P.K., Fox N.C., Harvey R., Rossor M.N., Collinge J. Pathogenic presenilin 1 mutations (P436S and I143F) in early-onset Alzheimer's disease in the UK. Hum. Mutat. 13:1999;256.
-
(1999)
Hum. Mutat.
, vol.13
, pp. 256
-
-
Palmer, M.S.1
Beck, J.A.2
Campbell, T.A.3
Humphries, C.B.4
Roques, P.K.5
Fox, N.C.6
Harvey, R.7
Rossor, M.N.8
Collinge, J.9
-
25
-
-
0030474298
-
Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1
-
Jorgensen P., Bus C., Pallisgaard N., Bryder M., Jorgensen A.L. Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1. Clin. Genet. 50:1996;281-286.
-
(1996)
Clin. Genet.
, vol.50
, pp. 281-286
-
-
Jorgensen, P.1
Bus, C.2
Pallisgaard, N.3
Bryder, M.4
Jorgensen, A.L.5
-
26
-
-
0033358671
-
Early-onset autosomal dominant Alzheimer's disease: Prevalence, genetic heterogeneity, and mutation spectrum
-
Campion D., Dumanchin C., Hannequin D., Dubois B., Belliard S., Puel M., Thomas-Anterion C., Michon A., Martin C., Charbonnier F., Raux G., Camuzat A., Penet C., Mesnage V., Martinez M., Clerget-Darpoux F., Brice A., Frebourg T. Early-onset autosomal dominant Alzheimer's disease: prevalence, genetic heterogeneity, and mutation spectrum. Am. J. Hum. Genet. 65:1999;664-670.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 664-670
-
-
Campion, D.1
Dumanchin, C.2
Hannequin, D.3
Dubois, B.4
Belliard, S.5
Puel, M.6
Thomas-Anterion, C.7
Michon, A.8
Martin, C.9
Charbonnier, F.10
Raux, G.11
Camuzat, A.12
Penet, C.13
Mesnage, V.14
Martinez, M.15
Clerget-Darpoux, F.16
Brice, A.17
Frebourg, T.18
-
27
-
-
0031955162
-
Wide range of disease onset in a family with Alzheimer's disease and a His163Tyr mutation in the presenilin-1 gene
-
Axelman K., Basun H., Lannfelt L. Wide range of disease onset in a family with Alzheimer's disease and a His163Tyr mutation in the presenilin-1 gene. Ach. Neurol. 55:1998;698-702.
-
(1998)
Ach. Neurol.
, vol.55
, pp. 698-702
-
-
Axelman, K.1
Basun, H.2
Lannfelt, L.3
-
28
-
-
0033010135
-
A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures
-
Ezquerra M., Carnero C., Blesa R., Gelpi J.L., Ballesta F., Oliva R. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology. 52:1999;566-570.
-
(1999)
Neurology
, vol.52
, pp. 566-570
-
-
Ezquerra, M.1
Carnero, C.2
Blesa, R.3
Gelpi, J.L.4
Ballesta, F.5
Oliva, R.6
-
29
-
-
7844246535
-
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease
-
Taddei K., Kwok J.B., Kril J.J., Halliday G.M., Creasey H., Hallupp M., Fisher C., Brooks W.S., Chung C., Andrews C., Masters C.L., Schofield P.R., Martins R.N. Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. NeuroReport. 9:1998;3335-3339.
-
(1998)
NeuroReport
, vol.9
, pp. 3335-3339
-
-
Taddei, K.1
Kwok, J.B.2
Kril, J.J.3
Halliday, G.M.4
Creasey, H.5
Hallupp, M.6
Fisher, C.7
Brooks, W.S.8
Chung, C.9
Andrews, C.10
Masters, C.L.11
Schofield, P.R.12
Martins, R.N.13
-
30
-
-
0031790549
-
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer's disease
-
Ramirez-Duenas M.G., Rogaeva E.A., Leal C.A., Lin C., Ramirez-Casillas G.A., Hernandez-Romo J.A., St George-Hyslop P.H., Cantu J.M. A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer's disease. Ann. Genet. 41:1998;149-153.
-
(1998)
Ann. Genet.
, vol.41
, pp. 149-153
-
-
Ramirez-Duenas, M.G.1
Rogaeva, E.A.2
Leal, C.A.3
Lin, C.4
Ramirez-Casillas, G.A.5
Hernandez-Romo, J.A.6
St George-Hyslop, P.H.7
Cantu, J.M.8
-
31
-
-
0033601973
-
Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene
-
Smith M.J., Gardner R.J., Knight M.A., Forrest S.M., Beyreuther K., Storey E., McLean C.A., Cotton R.G., Cappal R., Masters C.L. Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene. NeuroReport. 10:1999;503-507.
-
(1999)
NeuroReport
, vol.10
, pp. 503-507
-
-
Smith, M.J.1
Gardner, R.J.2
Knight, M.A.3
Forrest, S.M.4
Beyreuther, K.5
Storey, E.6
McLean, C.A.7
Cotton, R.G.8
Cappal, R.9
Masters, C.L.10
-
32
-
-
8244260610
-
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
-
Kwok J.B., Taddei K., Hallupp M., Fisher C., Brooks W.S., Broe G.A., Hardy J., Fulham M.J., Nicholson G.A., Stell R., St. George-Hyslop P.H., Fraser P.E., Kakulas B., Clarnette R., Relkin N., Gandy S.E., Schofield P.R., Martins R.N. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. NeuroReport. 8:1997;1537-1542.
-
(1997)
NeuroReport
, vol.8
, pp. 1537-1542
-
-
Kwok, J.B.1
Taddei, K.2
Hallupp, M.3
Fisher, C.4
Brooks, W.S.5
Broe, G.A.6
Hardy, J.7
Fulham, M.J.8
Nicholson, G.A.9
Stell, R.10
St. George-Hyslop, P.H.11
Fraser, P.E.12
Kakulas, B.13
Clarnette, R.14
Relkin, N.15
Gandy, S.E.16
Schofield, P.R.17
Martins, R.N.18
-
33
-
-
10144244629
-
A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years
-
Campion D., Brice A., Dumanchin C., Puel M., Baulac M., De La Sayette V., Hannequin D., Duyckaerts C., Michon A., Martin C., Moreau V., Penet C., Martinez M., Clerget-Darpoux F., Agid Y., Frebourg T. A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years. NeuroReport. 7:1996;1582-1584.
-
(1996)
NeuroReport
, vol.7
, pp. 1582-1584
-
-
Campion, D.1
Brice, A.2
Dumanchin, C.3
Puel, M.4
Baulac, M.5
De La Sayette, V.6
Hannequin, D.7
Duyckaerts, C.8
Michon, A.9
Martin, C.10
Moreau, V.11
Penet, C.12
Martinez, M.13
Clerget-Darpoux, F.14
Agid, Y.15
Frebourg, T.16
-
34
-
-
0031971693
-
Chromosome 14 familial Alzheimer's disease: The clinical and neuropathological characteristics of a family with a leucine→serine (L250S) substitution at codon 250 of the presenilin 1 gene
-
Harvey R.J., Ellison D., Hardy J., Hutton M., Roques P.K., Collinge J., Fox N.C., Rossor M.N. Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine→serine (L250S) substitution at codon 250 of the presenilin 1 gene. J. Neurol. Neurosurg. Psychiatry. 64:1998;44-49.
-
(1998)
J. Neurol. Neurosurg. Psychiatry
, vol.64
, pp. 44-49
-
-
Harvey, R.J.1
Ellison, D.2
Hardy, J.3
Hutton, M.4
Roques, P.K.5
Collinge, J.6
Fox, N.C.7
Rossor, M.N.8
-
35
-
-
8044251536
-
The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients
-
Ikeda M., Sharma V., Sumi S.M., Rogaeva E.A., Poorkaj P., Sherrington R., Nee L., Tsuda T., Oda N., Watanabe M., Aoki M., Shoji M., Abe K., Itoyama Y., Hirai S., Schellenberg G.D., Bird T.D., St George-Hyslop P.H. The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients. Ann. Neurol. 40:1996;912-917.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 912-917
-
-
Ikeda, M.1
Sharma, V.2
Sumi, S.M.3
Rogaeva, E.A.4
Poorkaj, P.5
Sherrington, R.6
Nee, L.7
Tsuda, T.8
Oda, N.9
Watanabe, M.10
Aoki, M.11
Shoji, M.12
Abe, K.13
Itoyama, Y.14
Hirai, S.15
Schellenberg, G.D.16
Bird, T.D.17
St George-Hyslop, P.H.18
-
36
-
-
0030777195
-
A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease
-
Forsell C., Froelich S., Axelman K., Vestling M., Cowburn R.F., Lilius L., Johnston J.A., Engvall B., Johansson K., Dahlkild A., Ingelson M., St. George-Hyslop P.H., Lannfelt L. A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease. Neurosci. Lett. 234:1997;3-6.
-
(1997)
Neurosci. Lett.
, vol.234
, pp. 3-6
-
-
Forsell, C.1
Froelich, S.2
Axelman, K.3
Vestling, M.4
Cowburn, R.F.5
Lilius, L.6
Johnston, J.A.7
Engvall, B.8
Johansson, K.9
Dahlkild, A.10
Ingelson, M.11
St. George-Hyslop, P.H.12
Lannfelt, L.13
-
37
-
-
0029052710
-
Familial Alzheimer's chromosome 14 mutations
-
Wasco W., Pettingell W.P., Jondro P.D., Schmidt S.D., Gurubhagavatula S., Rodes L., DiBlasi T., Romano D.M., Guenette S.Y., Kovacs D.M. Familial Alzheimer's chromosome 14 mutations. Nat. Med. 1:1995;848.
-
(1995)
Nat. Med.
, vol.1
, pp. 848
-
-
Wasco, W.1
Pettingell, W.P.2
Jondro, P.D.3
Schmidt, S.D.4
Gurubhagavatula, S.5
Rodes, L.6
Diblasi, T.7
Romano, D.M.8
Guenette, S.Y.9
Kovacs, D.M.10
-
38
-
-
15144345926
-
A novel presenilin-1 mutation: Increased beta-amyloid and neurofibrillary changes
-
Gomez-Isla T., Wasco W., Pettingell W.P., Gurubhagavatula S., Schmidt S.D., Jondro P.D., McNamara M., Rodes L.A., DiBlasi T., Growdon W.B., Seubert P., Schenk D., Growdon J.H., Hyman B.T., Tanzi R.E. A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. Ann. Neurol. 41:1997;809-813.
-
(1997)
Ann. Neurol.
, vol.41
, pp. 809-813
-
-
Gomez-Isla, T.1
Wasco, W.2
Pettingell, W.P.3
Gurubhagavatula, S.4
Schmidt, S.D.5
Jondro, P.D.6
McNamara, M.7
Rodes, L.A.8
Diblasi, T.9
Growdon, W.B.10
Seubert, P.11
Schenk, D.12
Growdon, J.H.13
Hyman, B.T.14
Tanzi, R.E.15
-
39
-
-
0030250147
-
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease
-
Perez-Tur J., Croxton R., Wright K., Phillips H., Zehr C., Crook R., Hutton M., Hardy J., Karran E., Roberts G.W., Lancaster S., Haltia T. A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. Neurodegeneration. 5:1996;207-212.
-
(1996)
Neurodegeneration
, vol.5
, pp. 207-212
-
-
Perez-Tur, J.1
Croxton, R.2
Wright, K.3
Phillips, H.4
Zehr, C.5
Crook, R.6
Hutton, M.7
Hardy, J.8
Karran, E.9
Roberts, G.W.10
Lancaster, S.11
Haltia, T.12
-
40
-
-
0032536016
-
Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease
-
Aldudo J., Bullido M.J., Arbizu T., Oliva R., Valdivieso F. Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease. Neurosci. Lett. 240:1998;174-176.
-
(1998)
Neurosci. Lett.
, vol.240
, pp. 174-176
-
-
Aldudo, J.1
Bullido, M.J.2
Arbizu, T.3
Oliva, R.4
Valdivieso, F.5
-
41
-
-
0029554875
-
A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
-
Perez-Tur J., Froelich S., Prihar G., Crook R., Baker M., Duff K., Wragg M., Busfield F., Lendon C., Clark R.F., Roques P., Fuldner R.A., Johnston J., Cowburn R., Forsell C., Axelman K., Lilius L., Houlden H., Karran E., Roberts G.W., Rossor M., Adams M.D., Hardy J., Goate A., Lannfelt L., Hutton M. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. NeuroReport. 7:1995;297-301.
-
(1995)
NeuroReport
, vol.7
, pp. 297-301
-
-
Perez-Tur, J.1
Froelich, S.2
Prihar, G.3
Crook, R.4
Baker, M.5
Duff, K.6
Wragg, M.7
Busfield, F.8
Lendon, C.9
Clark, R.F.10
Roques, P.11
Fuldner, R.A.12
Johnston, J.13
Cowburn, R.14
Forsell, C.15
Axelman, K.16
Lilius, L.17
Houlden, H.18
Karran, E.19
Roberts, G.W.20
Rossor, M.21
Adams, M.D.22
Hardy, J.23
Goate, A.24
Lannfelt, L.25
Hutton, M.26
more..
-
42
-
-
0031975957
-
Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease
-
Sato S., Kamino K., Miki T., Doi A., Ii K., StGeorge-Hyslop P.H., Ogihara T., Sakaki Y. Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease. Hum. Mutat. 1:(Suppl.):1998;S91-94.
-
(1998)
Hum. Mutat.
, vol.1
, Issue.SUPPL.
, pp. 91-94
-
-
Sato, S.1
Kamino, K.2
Miki, T.3
Doi, A.4
Ii, K.5
Stgeorge-Hyslop, P.H.6
Ogihara, T.7
Sakaki, Y.8
-
43
-
-
17944404642
-
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
-
Mattila K.M., Forsell C., Pirttila T., Rinne J.O., Lehtimaki T., Roytta M., Lilius L., Eerola A., St George-Hyslop P.H., Frey H., Lannfelt L. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. Ann. Neurol. 44:1998;965-967.
-
(1998)
Ann. Neurol.
, vol.44
, pp. 965-967
-
-
Mattila, K.M.1
Forsell, C.2
Pirttila, T.3
Rinne, J.O.4
Lehtimaki, T.5
Roytta, M.6
Lilius, L.7
Eerola, A.8
St George-Hyslop, P.H.9
Frey, H.10
Lannfelt, L.11
-
44
-
-
0032248908
-
Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification
-
Besancon R., Lorenzi A., Cruts M., Radawiec S., Sturtz F., Broussolle E., Chazot G., van Broeckhoven C., Chamba G., Vandenberghe A. Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Hum. Mutat. 11:1998;481.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 481
-
-
Besancon, R.1
Lorenzi, A.2
Cruts, M.3
Radawiec, S.4
Sturtz, F.5
Broussolle, E.6
Chazot, G.7
Van Broeckhoven, C.8
Chamba, G.9
Vandenberghe, A.10
-
45
-
-
0028861041
-
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
-
Cruts M., Backhovens H., Wang S.Y., Gassen G.V., Theuns J., De Jonghe C., Wehnert A., De Voecht J., De Winter G., Cras P., Bruyland M., Datson N., Weissenbach J., Dendunnen J.T., Martin J.J., Hendriks L., van Broeckhoven C. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum. Mol. Genet. 4:1995;2363-2371.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2363-2371
-
-
Cruts, M.1
Backhovens, H.2
Wang, S.Y.3
Gassen, G.V.4
Theuns, J.5
De Jonghe, C.6
Wehnert, A.7
De Voecht, J.8
De Winter, G.9
Cras, P.10
Bruyland, M.11
Datson, N.12
Weissenbach, J.13
Dendunnen, J.T.14
Martin, J.J.15
Hendriks, L.16
Van Broeckhoven, C.17
-
46
-
-
0032611568
-
A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: Clinical and molecular characterization
-
Kowalska A., Forsell C., Florczak J., Pruchnik-Wolinska D., Modestowicz R., Paprzycki W., Wender M., Lannfelt L. A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: clinical and molecular characterization. Folia Neuropathol. 37:1999;57-61.
-
(1999)
Folia Neuropathol.
, vol.37
, pp. 57-61
-
-
Kowalska, A.1
Forsell, C.2
Florczak, J.3
Pruchnik-Wolinska, D.4
Modestowicz, R.5
Paprzycki, W.6
Wender, M.7
Lannfelt, L.8
-
47
-
-
0031569390
-
Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease
-
Rogaev E.I., Sherrington R., Wu C., Levesque G., Liang Y., Rogaeva E.A., Ikeda M., Holman K., Lin C., Lukiw W.J., de Jong P.J., Fraser P.E., Rommens J.M., St George-Hyslop P. Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. 40:1997;415-424.
-
(1997)
Genomics
, vol.40
, pp. 415-424
-
-
Rogaev, E.I.1
Sherrington, R.2
Wu, C.3
Levesque, G.4
Liang, Y.5
Rogaeva, E.A.6
Ikeda, M.7
Holman, K.8
Lin, C.9
Lukiw, W.J.10
De Jong, P.J.11
Fraser, P.E.12
Rommens, J.M.13
St George-Hyslop, P.14
-
48
-
-
0030922146
-
Evidence for a six-transmembrane domain structure of presenilin 1
-
Lehmann S., Chiesa R., Harris D.A. Evidence for a six-transmembrane domain structure of presenilin 1. J. Biol. Chem. 272:1997;12047-12051.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 12047-12051
-
-
Lehmann, S.1
Chiesa, R.2
Harris, D.A.3
-
49
-
-
0030293854
-
Protein topology of presenilin 1
-
Doan A., Thinakaran G., Borchelt D.R., Slunt H.H., Ratovitsky T., Podlisny M., Selkoe D.J., Seeger M., Gandy S.E., Price D.L., Sisodia S.S. Protein topology of presenilin 1. Neuron. 17:1996;1023-1030.
-
(1996)
Neuron
, vol.17
, pp. 1023-1030
-
-
Doan, A.1
Thinakaran, G.2
Borchelt, D.R.3
Slunt, H.H.4
Ratovitsky, T.5
Podlisny, M.6
Selkoe, D.J.7
Seeger, M.8
Gandy, S.E.9
Price, D.L.10
Sisodia, S.S.11
-
50
-
-
0032972547
-
Presenilins interact with armadillo proteins including neural specific plakophilin related protein and β-catenin
-
Levesque G., Yu G., Nishimura M., Zhang D.-M., Levesque L., Yu H., Xu D., Liang Y., Rogaeva E., Ikeda M., Duthie M., Murgolo N., Wang L., VanderVere P., Bayne M.L., Strader C.D., Rommens J.M., Fraser P.E., St George-Hyslop P. Presenilins interact with armadillo proteins including neural specific plakophilin related protein and β-catenin. J. Neurochem. 72:1998;999-1008.
-
(1998)
J. Neurochem.
, vol.72
, pp. 999-1008
-
-
Levesque, G.1
Yu, G.2
Nishimura, M.3
Zhang, D.-M.4
Levesque, L.5
Yu, H.6
Xu, D.7
Liang, Y.8
Rogaeva, E.9
Ikeda, M.10
Duthie, M.11
Murgolo, N.12
Wang, L.13
Vandervere, P.14
Bayne, M.L.15
Strader, C.D.16
Rommens, J.M.17
Fraser, P.E.18
St George-Hyslop, P.19
-
51
-
-
0033551742
-
Membrane topology of Alzheimer's disease-related presenilin 1. Evidence for the existence of a molecular species with a seven membrane-spanning and one membrane-embedded structure
-
Nakai T., Yamasaki A., Sakaguchi M., Kosaka K., Mihara K., Amaya Y., Miura S. Membrane topology of Alzheimer's disease-related presenilin 1. Evidence for the existence of a molecular species with a seven membrane-spanning and one membrane-embedded structure. J. Biol. Chem. 274:1999;23647-23658.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 23647-23658
-
-
Nakai, T.1
Yamasaki, A.2
Sakaguchi, M.3
Kosaka, K.4
Mihara, K.5
Amaya, Y.6
Miura, S.7
-
52
-
-
15844425969
-
Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo
-
Thinakaran G., Borchelt D.R., Lee M.K., Slunt H.H., Spitzer L., Kim G., Ratovitsky T., Davenport F., Nordstedt C., Seeger M., Hardy J., Levey A.I., Gandy S.E., Jenkins N.A., Copeland N.G., Price D.L., Sisodia S.S. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron. 17:1996;181-190.
-
(1996)
Neuron
, vol.17
, pp. 181-190
-
-
Thinakaran, G.1
Borchelt, D.R.2
Lee, M.K.3
Slunt, H.H.4
Spitzer, L.5
Kim, G.6
Ratovitsky, T.7
Davenport, F.8
Nordstedt, C.9
Seeger, M.10
Hardy, J.11
Levey, A.I.12
Gandy, S.E.13
Jenkins, N.A.14
Copeland, N.G.15
Price, D.L.16
Sisodia, S.S.17
-
53
-
-
0030889220
-
Presenilin proteins undergo heterogeneous endoproteolysis between Thr-291 and Ala-299 and occur as stable N- And C-terminal fragments in normal and Alzheimer brain tissue
-
Podlisny M.B., Citron M., Amarante P., Sherrington R., Xia W., Zhang J., Diehl T., Levesque G., Fraser P., Haass C., Koo E.H.M., Seubert P., St. George-Hyslop P., Teplow D.B., Selkoe D.J. Presenilin proteins undergo heterogeneous endoproteolysis between Thr-291 and Ala-299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue. Neurobiol. Dis. 3:1997;325-337.
-
(1997)
Neurobiol. Dis.
, vol.3
, pp. 325-337
-
-
Podlisny, M.B.1
Citron, M.2
Amarante, P.3
Sherrington, R.4
Xia, W.5
Zhang, J.6
Diehl, T.7
Levesque, G.8
Fraser, P.9
Haass, C.10
Koo, E.H.M.11
Seubert, P.12
St. George-Hyslop, P.13
Teplow, D.B.14
Selkoe, D.J.15
-
54
-
-
0031968723
-
Presenilin 1 is actively degraded by the 26S proteasome
-
Fraser P.E., Levesque G., Yu G., Mills L.R., Thirwell J., Frantseva M., Carlen P., St George-Hyslop P. Presenilin 1 is actively degraded by the 26S proteasome. Neurobiol. Aging. 19:1998;S19-21.
-
(1998)
Neurobiol. Aging
, vol.19
, pp. 19-21
-
-
Fraser, P.E.1
Levesque, G.2
Yu, G.3
Mills, L.R.4
Thirwell, J.5
Frantseva, M.6
Carlen, P.7
St George-Hyslop, P.8
-
55
-
-
0031920383
-
Stable association of presenilin derivatives and absence of presenilin interactions with APP
-
Thinakaran G., Regard J.B., Bouton C.M., Harris C.L., Price D.L., Borchelt D.R., Sisodia S.S. Stable association of presenilin derivatives and absence of presenilin interactions with APP. Neurobiol. Dis. 4:1998;438-453.
-
(1998)
Neurobiol. Dis.
, vol.4
, pp. 438-453
-
-
Thinakaran, G.1
Regard, J.B.2
Bouton, C.M.3
Harris, C.L.4
Price, D.L.5
Borchelt, D.R.6
Sisodia, S.S.7
-
56
-
-
0030868903
-
Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease
-
Kim T.W., Pettingell W.H., Jung Y.K., Kovacs D.M., Tanzi R.E. Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease. Science. 277:1997;373-376.
-
(1997)
Science
, vol.277
, pp. 373-376
-
-
Kim, T.W.1
Pettingell, W.H.2
Jung, Y.K.3
Kovacs, D.M.4
Tanzi, R.E.5
-
57
-
-
0038785079
-
Alzheimer's disease associated presenilin-1 holoprotein and its 18-20 kDa C-terminal fragment are death substrates for proteases of the caspase family
-
Grunberg J., Walter J., Loetscher H., Deuschle U., Jacobsen H., Haass C. Alzheimer's disease associated presenilin-1 holoprotein and its 18-20 kDa C-terminal fragment are death substrates for proteases of the caspase family. Biochemistry. 37:1998;2263-2270.
-
(1998)
Biochemistry
, vol.37
, pp. 2263-2270
-
-
Grunberg, J.1
Walter, J.2
Loetscher, H.3
Deuschle, U.4
Jacobsen, H.5
Haass, C.6
-
58
-
-
0032507667
-
Caspase-mediated cleavage is not required for the activity of presenilins in amyloidogenesis and Notch signaling
-
Brockhaus M., Grunberg J., Rohrig S., Loetscher H., Wittenburg N., Baumeister R., Jacobsen H., Haass C. Caspase-mediated cleavage is not required for the activity of presenilins in amyloidogenesis and Notch signaling. NeuroReport. 9:1998;1481-1486.
-
(1998)
NeuroReport
, vol.9
, pp. 1481-1486
-
-
Brockhaus, M.1
Grunberg, J.2
Rohrig, S.3
Loetscher, H.4
Wittenburg, N.5
Baumeister, R.6
Jacobsen, H.7
Haass, C.8
-
59
-
-
0030680151
-
Generation of anti-apoptotic presenilin-2 polypeptides by alternative transcription, proteolysis, and caspase-3 cleavage
-
Vito P., Ghayur T., D'Adamio L. Generation of anti-apoptotic presenilin-2 polypeptides by alternative transcription, proteolysis, and caspase-3 cleavage. J. Biol. Chem. 272:1997;28315-28320.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 28315-28320
-
-
Vito, P.1
Ghayur, T.2
D'Adamio, L.3
-
60
-
-
0032488995
-
The proteolytic fragments of the Alzheimer's disease-associated presenilin-1 form heterodimers and occur as a 100-150-kDa molecular mass complex
-
Capell A., Grunberg J., Pesold B., Diehlmann A., Citron M., Nixon R., Beyreuther K., Selkoe D.J., Haass C. The proteolytic fragments of the Alzheimer's disease-associated presenilin-1 form heterodimers and occur as a 100-150-kDa molecular mass complex. J. Biol. Chem. 273:1998;3205-3211.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 3205-3211
-
-
Capell, A.1
Grunberg, J.2
Pesold, B.3
Diehlmann, A.4
Citron, M.5
Nixon, R.6
Beyreuther, K.7
Selkoe, D.J.8
Haass, C.9
-
61
-
-
0031746979
-
A detergent-insoluble membrane compartment contains Aβ in vivo
-
Lee S.J., Liyanage U., Bickel P.E., Xia W., Lansbury P.T. Jr., Kosik K.S. A detergent-insoluble membrane compartment contains Aβ in vivo. Nat. Med. 4:1998;730-734.
-
(1998)
Nat. Med.
, vol.4
, pp. 730-734
-
-
Lee, S.J.1
Liyanage, U.2
Bickel, P.E.3
Xia, W.4
Lansbury P.T., Jr.5
Kosik, K.S.6
-
62
-
-
0033610863
-
Expression of Alzheimer's disease-associated presenilin-1 is controlled by proteolytic degradation and complex formation
-
Steiner H., Capell A., Pesold B., Citron M., Kloetzel P.M., Selkoe D.J., Romig H., Mendla K., Haass C. Expression of Alzheimer's disease-associated presenilin-1 is controlled by proteolytic degradation and complex formation. J. Biol. Chem. 273:1998;32322-32331.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 32322-32331
-
-
Steiner, H.1
Capell, A.2
Pesold, B.3
Citron, M.4
Kloetzel, P.M.5
Selkoe, D.J.6
Romig, H.7
Mendla, K.8
Haass, C.9
-
63
-
-
0030667426
-
Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors
-
Thinakaran G., Harris C.L., Ratovitski T., Davenport F., Slunt H.H., Price D.L., Borchelt D.R., Sisodia S.S. Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors. J. Biol. Chem. 272:1997;28415-28422.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 28415-28422
-
-
Thinakaran, G.1
Harris, C.L.2
Ratovitski, T.3
Davenport, F.4
Slunt, H.H.5
Price, D.L.6
Borchelt, D.R.7
Sisodia, S.S.8
-
64
-
-
0032516821
-
Molecular dissection of domains in mutant presenilin 2 that mediate overproduction of amyloidogenic forms of amyloid β peptides. Inability of truncated forms of PS2 with familial Alzheimer's disease mutation to increase secretion of Aβ42
-
Tomita T., Tokuhiro S., Hashimoto T., Aiba K., Saido T.C., Maruyama K., Iwatsubo T. Molecular dissection of domains in mutant presenilin 2 that mediate overproduction of amyloidogenic forms of amyloid β peptides. Inability of truncated forms of PS2 with familial Alzheimer's disease mutation to increase secretion of Aβ42. J. Biol. Chem. 273:1998;21153-21160.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 21153-21160
-
-
Tomita, T.1
Tokuhiro, S.2
Hashimoto, T.3
Aiba, K.4
Saido, T.C.5
Maruyama, K.6
Iwatsubo, T.7
-
65
-
-
0030788767
-
Presenilin 1 interaction in the brain with a novel member of the Armadillo family
-
Zhou J., Liyanage U., Medina M., Ho C., Simmons A.D., Lovett M., Kosik K.S. Presenilin 1 interaction in the brain with a novel member of the Armadillo family. NeuroReport. 8:1997;2085-2090.
-
(1997)
NeuroReport
, vol.8
, pp. 2085-2090
-
-
Zhou, J.1
Liyanage, U.2
Medina, M.3
Ho, C.4
Simmons, A.D.5
Lovett, M.6
Kosik, K.S.7
-
66
-
-
0033515530
-
Direct interaction of Alzheimer's disease-related presenilin 1 with armadillo protein p0071
-
Stahl B., Diehlmann A., Sudhof T.C. Direct interaction of Alzheimer's disease-related presenilin 1 with armadillo protein p0071. J. Biol. Chem. 274:1999;9141-9148.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 9141-9148
-
-
Stahl, B.1
Diehlmann, A.2
Sudhof, T.C.3
-
67
-
-
0032545273
-
Abrogation of the presenilin 1/β-catenin interaction and preservation of the heterodimeric presenilin 1 complex following caspase activation
-
Tesco G., Kim T.W., Diehlmann A., Beyreuther K., Tanzi R.E. Abrogation of the presenilin 1/β-catenin interaction and preservation of the heterodimeric presenilin 1 complex following caspase activation. J. Biol. Chem. 273:1998;33909-33914.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 33909-33914
-
-
Tesco, G.1
Kim, T.W.2
Diehlmann, A.3
Beyreuther, K.4
Tanzi, R.E.5
-
68
-
-
0031054505
-
Formation of stable complexes between two Alzheimer's disease gene products: Presenilin-2 and β-amyloid precursor protein
-
Weidemann A., Paliga K., Durrwang U., Czech C., Evin G., Masters C.L., Beyreuther K. Formation of stable complexes between two Alzheimer's disease gene products: presenilin-2 and β-amyloid precursor protein. Nat. Med. 3:1997;328-332.
-
(1997)
Nat. Med.
, vol.3
, pp. 328-332
-
-
Weidemann, A.1
Paliga, K.2
Durrwang, U.3
Czech, C.4
Evin, G.5
Masters, C.L.6
Beyreuther, K.7
-
69
-
-
0030753089
-
Interaction between amyloid precursor protein and presenilins in mammalian cells: Implications for the pathogenesis of Alzheimer disease
-
Xia W., Zhang J., Perez R., Koo E.H., Selkoe D.J. Interaction between amyloid precursor protein and presenilins in mammalian cells: implications for the pathogenesis of Alzheimer disease. Proc. Natl. Acad. Sci. USA. 94:1997;8208-8213.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 8208-8213
-
-
Xia, W.1
Zhang, J.2
Perez, R.3
Koo, E.H.4
Selkoe, D.J.5
-
70
-
-
0026688633
-
Mutation of a putative sperm membrane protein in Caenorhabditis elegans prevents sperm differentiation but not its associated meiotic divisions
-
L'Hernault S.W., Arduengo P.M. Mutation of a putative sperm membrane protein in Caenorhabditis elegans prevents sperm differentiation but not its associated meiotic divisions. J. Cell Biol. 119:1992;55-68.
-
(1992)
J. Cell Biol.
, vol.119
, pp. 55-68
-
-
L'Hernault, S.W.1
Arduengo, P.M.2
-
71
-
-
0032905727
-
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of β-catenin, a component of the presenilin protein complex
-
Nishimura M., Yu G., Levesque G., Zhang D.M., Ruel L., Chen F., Levesque L., Millman P., Holmes E., Liang Y., Kawarai T., Jo E., Spala A., Rogaeva E., Jans C., Bi Q., Duthie M., Rozmahel R., Mattila K., Lannfelt L., Westaway D., Mont H.T.J., Woodgett J., Fraser P.E., St George-Hyslop P. Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of β-catenin, a component of the presenilin protein complex. Nat. Med. 5:1998;164-169.
-
(1998)
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
Levesque, L.7
Millman, P.8
Holmes, E.9
Liang, Y.10
Kawarai, T.11
Jo, E.12
Spala, A.13
Rogaeva, E.14
Jans, C.15
Bi, Q.16
Duthie, M.17
Rozmahel, R.18
Mattila, K.19
Lannfelt, L.20
Westaway, D.21
Mont, H.T.J.22
Woodgett, J.23
Fraser, P.E.24
St George-Hyslop, P.25
more..
-
72
-
-
0032556859
-
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
-
De Strooper B., Saftig P., Craessaerts K., Vanderstichele H., Guhde G., Annaert W., Von Figura K., Van Leuven F. Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature. 391:1998;387-390.
-
(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
-
73
-
-
0032564388
-
Presenilin 1 regulates the processing of β-amyloid precursor protein C-terminal fragments and the generation of amyloid β-protein in endoplasmic reticulum and Golgi
-
Xia W., Zhang J., Ostaszewski B.L., Kimberly W.T., Seubert P., Koo E.H., Shen J., Selkoe D.J. Presenilin 1 regulates the processing of β-amyloid precursor protein C-terminal fragments and the generation of amyloid β-protein in endoplasmic reticulum and Golgi. Biochemistry. 37:1998;16465-16471.
-
(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
-
74
-
-
0000138540
-
Effects of PS1 deficiency on membrane protein trafficking in neurons
-
Naruse S., Thinakaran G., Luo J.J., Kusiak J.W., Tomita T., Iwatsubo T., Qian X., Ginty D.D., Price D.L., Borchelt D.R., Wong P.C., Sisodia S.S. Effects of PS1 deficiency on membrane protein trafficking in neurons. Neuron. 21:1998;1213-1221.
-
(1998)
Neuron
, vol.21
, pp. 1213-1221
-
-
Naruse, S.1
Thinakaran, G.2
Luo, J.J.3
Kusiak, J.W.4
Tomita, T.5
Iwatsubo, T.6
Qian, X.7
Ginty, D.D.8
Price, D.L.9
Borchelt, D.R.10
Wong, P.C.11
Sisodia, S.S.12
-
75
-
-
0033535553
-
Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity (see comments)
-
Wolfe M.S., Xia W., Ostaszewski B.L., Diehl T.S., Kimberly W.T., Selkoe D.J. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity (see comments). Nature. 398:1999;513-517.
-
(1999)
Nature
, vol.398
, 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
-
76
-
-
0030779784
-
Skeletal and CNS defects in Presenilin-1-deficient mice
-
Shen J., Bronson R.T., Chen D.F., Xia W., Selkoe D.J., Tonegawa S. Skeletal and CNS defects in Presenilin-1-deficient mice. Cell. 89:1997;629-639.
-
(1997)
Cell
, vol.89
, pp. 629-639
-
-
Shen, J.1
Bronson, R.T.2
Chen, D.F.3
Xia, W.4
Selkoe, D.J.5
Tonegawa, S.6
-
77
-
-
17744401440
-
Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm
-
Wong P.C., Zheng H., Chen H., Becher M.W., Sirinathsinghji D.J., Trumbauer M.E., Chen H.Y., Price D.L., VanderPloeg L.H.T., Sisodia S.S. Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm. Nature. 387:1997;288-292.
-
(1997)
Nature
, vol.387
, pp. 288-292
-
-
Wong, P.C.1
Zheng, H.2
Chen, H.3
Becher, M.W.4
Sirinathsinghji, D.J.5
Trumbauer, M.E.6
Chen, H.Y.7
Price, D.L.8
Vanderploeg, L.H.T.9
Sisodia, S.S.10
-
78
-
-
0033535504
-
A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain
-
De Strooper B., Annaert W., Cupers P., Saftig P., Craessaerts K., Mumm J.S., Schroeter E.H., Schrijvers V., Wolfe M.S., Ray W.J., Goate A., Kopan R. A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain. Nature. 398:1999;518-522.
-
(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
-
79
-
-
0033535508
-
Presenilin is required for activity and nuclear access of Notch in Drosophila
-
Struhl G., Greenwald I. Presenilin is required for activity and nuclear access of Notch in Drosophila. Nature. 398:1999;522-526.
-
(1999)
Nature
, vol.398
, pp. 522-526
-
-
Struhl, G.1
Greenwald, I.2
-
80
-
-
0033535555
-
Neurogenic phenotypes and altered Notch processing in Drosophila presenlin mutants
-
Ye Y., Lukinova N., Fortini M.E. Neurogenic phenotypes and altered Notch processing in Drosophila presenlin mutants. Nature. 398:1999;525-529.
-
(1999)
Nature
, vol.398
, pp. 525-529
-
-
Ye, Y.1
Lukinova, N.2
Fortini, M.E.3
-
81
-
-
0033598996
-
A role for presenilin-1 in nuclear accumulation of Ire1 fragments and indction of the mammalian unfolded protein response
-
Niwa M., Sidrauski C., Kaufman R.J., Walter P. A role for presenilin-1 in nuclear accumulation of Ire1 fragments and indction of the mammalian unfolded protein response. Cell. 99:1999;691-702.
-
(1999)
Cell
, vol.99
, pp. 691-702
-
-
Niwa, M.1
Sidrauski, C.2
Kaufman, R.J.3
Walter, P.4
-
82
-
-
0033258544
-
Presenilin-1 mutation down-regulates the signalling pathway of unfolded protein response and increases vulnerability to ER stress
-
Katayama T., Imaizumi K., Sata N., Miyoshi K., Kudo T., Hitomi J., Morihara T., Yoneda T., Nakano Y., Takeda J., Tsuda T., Itoyama Y., Mrayama O., Takashima A., St George-Hyslop P., Takeda M., Tohyama M. Presenilin-1 mutation down-regulates the signalling pathway of unfolded protein response and increases vulnerability to ER stress. Nature Cell Biol. 1:1999;479-485.
-
(1999)
Nature Cell Biol.
, vol.1
, pp. 479-485
-
-
Katayama, T.1
Imaizumi, K.2
Sata, N.3
Miyoshi, K.4
Kudo, T.5
Hitomi, J.6
Morihara, T.7
Yoneda, T.8
Nakano, Y.9
Takeda, J.10
Tsuda, T.11
Itoyama, Y.12
Mrayama, O.13
Takashima, A.14
St George-Hyslop, P.15
Takeda, M.16
Tohyama, M.17
-
83
-
-
0032032019
-
An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos
-
Davis J.A., Naruse S., Chen H., Eckman C., Younkin S., Price D.L., Borchelt D.R., Sisodia S.S., Wong P.C. An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos. Neuron. 20:1998;603-609.
-
(1998)
Neuron
, vol.20
, pp. 603-609
-
-
Davis, J.A.1
Naruse, S.2
Chen, H.3
Eckman, C.4
Younkin, S.5
Price, D.L.6
Borchelt, D.R.7
Sisodia, S.S.8
Wong, P.C.9
-
84
-
-
0032032847
-
Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates Aβ1-42/43 expression
-
Qian S., Jiang P., Guan X.M., Singh G., Trumbauer M.E., Yu H., Chen H.Y., Van de Ploeg L.H., Zheng H. Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates Aβ1-42/43 expression. Neuron. 20:1998;611-617.
-
(1998)
Neuron
, vol.20
, pp. 611-617
-
-
Qian, S.1
Jiang, P.2
Guan, X.M.3
Singh, G.4
Trumbauer, M.E.5
Yu, H.6
Chen, H.Y.7
Van De Ploeg, L.H.8
Zheng, H.9
-
85
-
-
0029906585
-
Assessment of normal and mutant human presenilin function in Caenorhabditis elegans
-
Levitan D., Doyle T.G., Brousseau D., Lee M.K., Thinakaran G., Slunt H.H., Sisodia S.S., Greenwald I. Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA. 93:1996;14940-14944.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 14940-14944
-
-
Levitan, D.1
Doyle, T.G.2
Brousseau, D.3
Lee, M.K.4
Thinakaran, G.5
Slunt, H.H.6
Sisodia, S.S.7
Greenwald, I.8
-
86
-
-
0031108103
-
Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing
-
Baumeister R., Leimer U., Zweckbronner I., Jakubek C., Grunberg J., Haass C. Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. Genes Funct. 1:1997;149-159.
-
(1997)
Genes Funct.
, vol.1
, pp. 149-159
-
-
Baumeister, R.1
Leimer, U.2
Zweckbronner, I.3
Jakubek, C.4
Grunberg, J.5
Haass, C.6
-
87
-
-
0029416825
-
High levels of amyloid-β protein from S182 (Glu-246) familial Alzheimer's cells
-
Martins R.N., Turner B.A., Carroll R.T., Sweeney D., Kim K.S., Wisniewski H.M., Blass J.P., Gibson G.E., Gandy S. High levels of amyloid-β protein from S182 (Glu-246) familial Alzheimer's cells. NeuroReport. 7:1995;217-220.
-
(1995)
NeuroReport
, vol.7
, pp. 217-220
-
-
Martins, R.N.1
Turner, B.A.2
Carroll, R.T.3
Sweeney, D.4
Kim, K.S.5
Wisniewski, H.M.6
Blass, J.P.7
Gibson, G.E.8
Gandy, S.9
-
88
-
-
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
-
Scheuner D., Eckman C., Jensen M., Song X., Citron M., Suzuki N., Bird T.D., Hardy J., Hutton M., Kukull W., Larson E., Levy-Lahad E., Viitanen M., Peskind E., Poorkaj P., Schellenberg G., Tanzi R., Wasco W., Lannfelt L., Selkoe D., Younkin S. 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. Nat. Med. 2:1996;864-870.
-
(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..
-
89
-
-
16044366039
-
Increased amyloid-β42 in brains of mice expressing mutant presenilin 1
-
Duff K., Eckman C., Zehr C., Yu X., Prada C.M., Perez-tur J., Hutton M., Buee L., Harigaya Y., Yager D., Morgan D., Gordon M.N., Holcomb L., Refolo L., Zenk B., Hardy J., Younkin S. Increased amyloid-β42 in brains of mice expressing mutant presenilin 1. Nature. 383:1996;710-713.
-
(1996)
Nature
, vol.383
, pp. 710-713
-
-
Duff, K.1
Eckman, C.2
Zehr, C.3
Yu, X.4
Prada, C.M.5
Perez-Tur, 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
-
90
-
-
0030293676
-
Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo
-
Borchelt D.R., Thinakaran G., Eckman C.B., Lee M.K., Davenport F., Ratovitsky T., Prada C.M., Kim G., Seekins S., Yager D., Slunt H.H., Wang R., Seeger M., Levey A.I., Gandy S.E., Copeland N.G., Jenkins N.A., Price D.L., Younkin S.G., Sisodia S.S. Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron. 17:1996;1005-1013.
-
(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..
-
91
-
-
16944362157
-
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
-
Citron M., Westaway D., Xia W., Carlson G., Diehl T., Levesque G., Johnson-Wood K., Lee M., Seubert P., Davis A., Kolodenko D., Motter R., Sherrington R., Perry B., Yao H., Strome R., Lieberburg I., Rommens J., Kim S., Schenk D., Fraser P., St George-Hyslop P., Selkoe D.J. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nat. Med. 3:1997;67-72.
-
(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
Kolodenko, 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..
-
92
-
-
0039325592
-
Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, βaPP-linked and sporadic Alzheimer disease
-
Tamaoka A., Fraser P., Ishii K., Sahara N., Ozawa K., Ikeda M., Saunders A., Komatsuzaki Y., Sherrington R., Levesque G., Yu G., Rogaeva E., Shoji S., Nee L., Pollen D., Hendriks L., Martin J.J., van Broeckhoven C., Roses A.D., Farrer L.A., St George-Hyslop P., Mori H. Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, βAPP-linked and sporadic Alzheimer disease. Brain Res. Mol. Brain Res. 56:1998;178-185.
-
(1998)
Brain Res. Mol. Brain Res.
, vol.56
, pp. 178-185
-
-
Tamaoka, A.1
Fraser, P.2
Ishii, K.3
Sahara, N.4
Ozawa, K.5
Ikeda, M.6
Saunders, A.7
Komatsuzaki, Y.8
Sherrington, R.9
Levesque, G.10
Yu, G.11
Rogaeva, E.12
Shoji, S.13
Nee, L.14
Pollen, D.15
Hendriks, L.16
Martin, J.J.17
Van Broeckhoven, C.18
Roses, A.D.19
Farrer, L.A.20
St George-Hyslop, P.21
Mori, H.22
more..
-
93
-
-
0029856850
-
Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3
-
Vito P., Wolozin B., Ganjei J.K., Iwasaki K., Lacana E., D'Adamio L. Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3. J. Biol. Chem. 271:1996;31025-31028.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 31025-31028
-
-
Vito, P.1
Wolozin, B.2
Ganjei, J.K.3
Iwasaki, K.4
Lacana, E.5
D'Adamio, L.6
-
94
-
-
0030580281
-
Alzheimer-associated presenilin-2 confers increased sensitivity to apoptosis in PC12 cells
-
Deng G., Pike C.J., Cotman C.W. Alzheimer-associated presenilin-2 confers increased sensitivity to apoptosis in PC12 cells. FEBS Lett. 397:1996;50-54.
-
(1996)
FEBS Lett.
, vol.397
, pp. 50-54
-
-
Deng, G.1
Pike, C.J.2
Cotman, C.W.3
-
95
-
-
10544224542
-
Participation of presenilin 2 in apoptosis enhanced basal activity conferred by an Alzheimer mutation
-
Wolozin B., Iwasaki K., Vito P., Ganjei J.K., Lacana E., Sunderland T., Zhao B., Kusiak J.W., Wasco W., D'Adamio L. Participation of presenilin 2 in apoptosis enhanced basal activity conferred by an Alzheimer mutation. Science. 274:1996;1710-1713.
-
(1996)
Science
, vol.274
, pp. 1710-1713
-
-
Wolozin, B.1
Iwasaki, K.2
Vito, P.3
Ganjei, J.K.4
Lacana, E.5
Sunderland, T.6
Zhao, B.7
Kusiak, J.W.8
Wasco, W.9
D'Adamio, L.10
-
96
-
-
0032614379
-
Cellular mechanisms of wingless/Wnt signal transduction
-
Dierick H., Bejsovec A. Cellular mechanisms of wingless/Wnt signal transduction. Cur. Top. Dev. Biol. 43:1999;153-190.
-
(1999)
Cur. Top. Dev. Biol.
, vol.43
, pp. 153-190
-
-
Dierick, H.1
Bejsovec, A.2
-
97
-
-
0032531793
-
Destabilization of β-catenin by mutations in presenilin-1 potentiates neuronal apoptosis
-
Zhang Z., Hartmann H., Do V.M., Abramowski D., Sturchler-Pierrat C., Staufenbiel M., Sommer B., van de Wetering M., Clevers H., Saftig P., De Strooper B., He X., Yankner B.A. Destabilization of β-catenin by mutations in presenilin-1 potentiates neuronal apoptosis. Nature. 395:1998;698-702.
-
(1998)
Nature
, vol.395
, pp. 698-702
-
-
Zhang, Z.1
Hartmann, H.2
Do, V.M.3
Abramowski, D.4
Sturchler-Pierrat, C.5
Staufenbiel, M.6
Sommer, B.7
Van De Wetering, M.8
Clevers, H.9
Saftig, P.10
De Strooper, B.11
He, X.12
Yankner, B.A.13
-
98
-
-
13144265717
-
Presenilin 1 associates with glycogen synthase kinase-3β and its substrate tau
-
Takashima A., Murayama M., Murayama O., Kohno T., Honda T., Yasutake K., Nihonmatsu N., Mercken M., Yamaguchi H., Sugihara S., Wolozin B. Presenilin 1 associates with glycogen synthase kinase-3β and its substrate tau. Proc. Natl. Acad. Sci. USA. 95:1998;9637-9641.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 9637-9641
-
-
Takashima, A.1
Murayama, M.2
Murayama, O.3
Kohno, T.4
Honda, T.5
Yasutake, K.6
Nihonmatsu, N.7
Mercken, M.8
Yamaguchi, H.9
Sugihara, S.10
Wolozin, B.11
-
99
-
-
0031039650
-
Tau phosphorylation in cells transfected with wild-type or Alzheimer's disease mutant presenilin 1
-
Irving N.G., Millaer C.C.J. Tau phosphorylation in cells transfected with wild-type or Alzheimer's disease mutant presenilin 1. Neurosci. Lett. 222:1997;71-74.
-
(1997)
Neurosci. Lett.
, vol.222
, pp. 71-74
-
-
Irving, N.G.1
Millaer, C.C.J.2
-
100
-
-
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
-
Rogaev E.I., Sherrington R., Rogaeva E.A., Levesque G., Ikeda M., Liang Y., Chi H., Lin C., Holman K., Tsuda T., Mar L., Sorbi S., Nacmias B., Piacentini S., Amaducci L., Chumakov I., Cohen D., Lannfelt L., Fraser P.E., Rommens J.M., St George-Hyslop P.H. 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. 376:1995;775-778.
-
(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..
-
101
-
-
0029087026
-
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
-
Levy-Lahad E., Wasco W., Poorkaj P., Romano D.M., Oshima J., Pettingell W.H., Yu C.E., Jondro P.D., Schmidt S.D., Wang K., Crowley A.C., Fu Y.H., Guenette S.Y., Galas D., Nemens E., Wijsman E.M., Bird T.D., Schellenberg G.D., Tanzi R.E. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 269:1995;973-977.
-
(1995)
Science
, vol.269
, pp. 973-977
-
-
Levy-Lahad, E.1
Wasco, W.2
Poorkaj, P.3
Romano, D.M.4
Oshima, J.5
Pettingell, W.H.6
Yu, C.E.7
Jondro, P.D.8
Schmidt, S.D.9
Wang, K.10
Crowley, A.C.11
Fu, Y.H.12
Guenette, S.Y.13
Galas, D.14
Nemens, E.15
Wijsman, E.M.16
Bird, T.D.17
Schellenberg, G.D.18
Tanzi, R.E.19
-
102
-
-
0031761706
-
Protein precipitation: A common etiology in neurodegenerative disorders?
-
Kakizuka A. Protein precipitation: a common etiology in neurodegenerative disorders? Trends Genet. 14:1998;396-402.
-
(1998)
Trends Genet.
, vol.14
, pp. 396-402
-
-
Kakizuka, A.1
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