ライフサイエンスコーパス: presenilin-1

1 mplex composed of Aph1, Pen2, Nicastrin, and Presenilin 1.

2 pain, potassium channel activity, and binds presenilin 1.

3 familial Alzheimer's disease or mutations in presenilin 1.

4 al domain is important for interactions with presenilin 1.

5 id precursor protein, with or without mutant presenilin 1.

6 the genes for amyloid precursor protein and presenilin-1.

7 64L familial Alzheimer's disease mutation in presenilin-1.

8 rtment that contains APP, beta-secretase and presenilin-1.

9 osomal acidification caused by dysfunctional presenilin-1.

10 endent-interacting protein 1, clusterin, and presenilin-1.

11 0 (ADAM10) and the gamma-secretase component presenilin-1.

12 l components of the gamma-secretase complex, presenilin-1, -2, and nicastrin, accumulate in the mitoc

13 anscription through a Gal4-Tip60 reporter in presenilin-1/2-deficient cells lacking generation of AIC

14 Mutations in the gene for presenilin 1, a multi-transmembrane aspartyl protease, a

15 Presenilin 1, a protein involved in the development of f

16 ein (APP), beta-amyloid cleavage enzyme, and presenilin-1, a component of the gamma-secretase complex

17 nd upregulates Notch ligand Delta-1 and also presenilin-1, a protein involved in Notch processing, th

18 -hybrid assay as a bona fide interactor with presenilin-1, a protein which carries mutations that cau

19 or protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V).

20 ral interneurons in Columbus mutants lacking Presenilin-1 acquire an inappropriate attraction to Netr

21 on, mouse embryonic fibroblasts derived from presenilin 1 and 2 (PS1/2) knockouts recapitulated the g

22 utations in amyloid precursor protein (APP), presenilin 1 and 2 (PSEN1 and PSEN2) cause a subset of e

23 E and BACE2, the gamma-site-cleaving enzymes presenilin 1 and 2, apolipoprotein E, and other Alzheime

24 fically affect the proximity between APP and presenilin 1 and alter presenilin 1 conformation both in

25 nic mice with human familial mutant genes of presenilin 1 and amyloid precursor protein (PS1/APP), th

26 ums of mice expressing human familial mutant presenilin 1 and amyloid precursor protein genes, the le

27 APP-PS1 mice (which coexpress mutated human presenilin 1 and amyloid-beta precursor protein) and 30

28 s mutant human amyloid precursor protein and presenilin 1 and followed the death of individual neuron

29 link between the gamma-secretase function of presenilin 1 and learning and memory.

30 ditional knock-out mouse studies showed that Presenilin 1 and Notch 1 controlled neural sphere format

31 lly active protein complexes with endogenous presenilin 1 and PEN2 or affect the localization of gamm

32 Presenilin 1 and presenilin 2 are polytopic membrane pro

33 , Abeta40, and Abeta42) but has no effect on presenilin 1 and presenilin 2.

34 Comparison of presenilin 1 and sporadic Alzheimer's disease groups rev

35 tions M146V, A246E and deltaE9 and wild-type presenilin 1 and were examined here for gamma-secretase-

36 s in the amyloid precursor protein (APP) and presenilin-1 and -2 genes (PS-1, -2) cause Alzheimer's d

37 We recently showed that presenilin-1 and -2, the catalytic components of gamma-s

38 metric identification of cross-linked aph-1, presenilin-1 and nicastrin.

39 rexpressing amyloid precursor protein and/or presenilin-1 and nontransgenic controls were placed into

40 Mutations in presenilin-1 and presenilin-2 (PS1 and PS2) are the most

41 generated by deletion of the genes encoding presenilin-1 and presenilin-2 in bone, is associated wit

42 or protein or the gamma-secretase components presenilin-1 and presenilin-2 that cause familial early-

43 roximal CRE/TATA-less promoters (e.g. Nr4a3, Presenilin-1 and Presenilin-2).

44 those patients typically carry mutations in presenilin-1 and presenilin-2.

45 ne of three genes-amyloid precursor protein, presenilin-1 and presenilin-2; however, the molecular ba

46 Tg-AD transgenic mice expressing mutant APP, presenilin-1 and tau have significantly more aggressive

47 Mutations in presenilins 1 and 2 (PS1 and PS2) account for approximat

48 Presenilins 1 and 2 (PS1 and PS2) are the catalytic subu

49 Presenilins 1 and 2 (PS1/PS2) have been suggested to be

50 able to a decrease in steady-state levels of presenilin 1, and not to altered processing of the amylo

51 essing human amyloid-beta precursor protein, presenilin 1, and tau mutations, and apolipoprotein E, t

52 mutations in the amyloid precursor protein, presenilin-1, and presenilin-2 genes.

53 g the axonal transport of beta-secretase and presenilin-1, and that processing of APP to amyloid-beta

54 f axonal boutons and dendritic spines in APP/Presenilin 1 (APP(swe)/PS1(L166P))-green fluorescent pro

55 icular infusion in amyloid precursor protein/presenilin 1 (APP/PS1) double-transgenic 3-mo-old mice a

56 athology using the amyloid precursor protein/presenilin 1 (APP/PS1) mouse model of AD amyloidosis on

57 LTP impairments in amyloid precursor protein/presenilin 1 (APP/PS1) mutant mice that model Alzheimer'

58 ontaining transgenes for both APP and mutant presenilin 1 (APP/PS1), a similar reduction of pathology

59 at overexpress amyloid precursor protein and presenilin 1 (APP/PS1).

60 )-4 gene in beta-amyloid precursor protein + presenilin-1 (APP+PS1) bigenic mice attenuates AD pathog

61 The amyloid precursor protein + presenilin-1 (APP+PS1) transgenic mouse is a model for a

62 etion in older age amyloid precursor protein/presenilin-1 (APP/PS1) mice.

63 ressing mutant amyloid precursor protein and presenilin-1 (APP/PS1) were crossed with Ear2(-/-) mice

64 g mutant human amyloid precursor protein and presenilin-1 (APP/PS1).

65 double mutant amyloid precursor protein and presenilin 1 (APPswe/PSEN1dE9) mouse model of Alzheimer'

66 ations in beta-amyloid precursor protein and presenilin 1 are able to induce robust extracellular dep

67 Nicastrin and presenilin-1 are essential components of the gamma-secre

68 livered bilaterally to the hippocampi of APP+presenilin-1 bigenic mice via an adenoassociated virus s

69 depends on both p120ctn-cadherin and p120ctn-presenilin 1 binding, indicating that p120ctn is the cen

70 gic and cholinergic afferent input, and that presenilin-1, but not tau, may be subject to the same ty

71 otoactivable ATP analog specifically labeled presenilin 1-C-terminal fragments in purified gamma-secr

72 We also show that presenilin-1 coimmunoprecipitates with SERCA2a.

73 ge on cortical neuron survival by generating presenilin-1 conditional knock-out (PS1 cKO) mice carryi

74 ue of Neuron, report that forebrain-specific Presenilin-1 conditional knockout mice show defects in e

75 imity between APP and presenilin 1 and alter presenilin 1 conformation both in vitro and in vivo, sug

76 e also processed by the gamma-secretase in a Presenilin 1-dependent manner.

77 Overexpression of wild-type presenilin 1 did not increase gamma-secretase-mediated c

78 The subcellular distribution of APP and presenilin-1 did not appear to differ in BACE1 suppresse

79 idence that elastase increased intracellular presenilin-1 expression through PAR-2 signaling.

80 This cleavage is inhibited by presenilin 1 familial Alzheimer disease mutations.

81 of proteolytic function associated with the presenilin-1 familial Alzheimer disease mutations.

82 PEDF up-regulation of full-length presenilin 1 (Fl.PS1) facilitated the association of vas

83 he gamma-secretase and the redistribution of presenilin 1 from lipid rafts.

84 ctivity was associated with translocation of presenilin 1 from the perinuclear region to the cell mem

85 RNA and component of gamma-secretase complex presenilin 1 from Tsc1-null cells to wild-type cells lea

86 Loss of presenilin 1 function perturbs both radial and tangentia

87 observations indicate that in the absence of presenilin 1 function, the ability of a cell to move can

88 me that this disorder can stem from aberrant presenilin 1 function.

89 hat FAD mutations can cause complete loss of Presenilin-1 function in vivo, suggesting that clinical

90 ine whether gamma-secretase modulators alter Presenilin-1/gamma-secretase conformation in intact cell

91 y been shown that AD-linked mutations in the presenilin 1 gene (PS1) enhance inositol triphosphate (I

92 Mice with a null mutation of the presenilin 1 gene (Psen1(-/-)) die during late intrauter

93 amilial Alzheimer's disease mutations in the presenilin 1 gene (PSEN1) have been previously shown to

94 dominant AD (FAD) carrying mutations in the Presenilin 1 gene.

95 l AD mutation introduced by targeting of the presenilin-1 gene (PS1(P264L)).

96 al is a somatic mosaic for a mutation in the presenilin-1 gene, suggesting a novel molecular mechanis

97 We mapped this mutation to the Presenilin-1 gene.

98 Inheritance of mutant presenilin 1 genes (PSEN1) encoding presenilin 1 (PS1)va

99 nt from plaques in amyloid precursor protein/presenilin 1-GFP (APPPS1-GFP) nor those in GFP-control m

100 nificantly greater thalamic retention in the presenilin 1 group and significantly greater frontotempo

101 The Presenilin-1 group had similar parietal involvement to t

102 ous studies of the central nervous system in presenilin 1 homozygote mutant embryos identified a prem

103 an beta-amyloid precursor protein (hAPP) and presenilin-1 (hPS1).

104 the mutant phenotypes, and the inclusion of presenilin-1 improves rescue, suggesting that they inter

105 mutant amyloid precursor protein and mutant presenilin 1 in a neuron-specific COX-deficient backgrou

106 of understanding the structural dynamics of presenilin 1 in drug development against Alzheimer's dis

107 in led to marked stabilization of transgenic presenilin 1 in the brains of double-transgenic mice.

108 We now report that expression of the mutant presenilin-1 in these mice induces early and exaggerated

109 D mutations in amyloid precursor protein and presenilin 1 leads to sensitivity to trauma-induced PTSD

110 of beta-amyloid precursor protein (APP) and presenilin-1 leads to a significant inhibition of neurog

111 hroom spines in hippocampal neurons from the presenilin-1 M146V knockin (KI) mouse model of familial

112 -methylcytosine in amyloid precursor protein/presenilin 1 mice along with Alzheimer disease pathology

113 MP-9 in aged amyloid precursor protein (APP)/presenilin 1 mice.

114 itor dantrolene to amyloid precursor protein-presenilin-1 mice (Thy1-APP(KM670/671NL), Thy1-PS1(L166P

115 ansgenic (Tg) amyloid precursor protein plus presenilin-1 mice when administered at 375 ppm in diet b

116 signaling in Notch1 conditional knockout or Presenilin-1-/- mice results in reduced apoptosis of ear

117 Dysfunction of presenilin-1, misprocessing of amyloid precursor protein

118 of DSP-8658 in the amyloid precursor protein/presenilin 1 mouse model confirmed an increased microgli

119 Presenilin-1 mRNA was expressed in the hippocampus at ve

120 el expressing the Swedish mutant APP and the presenilin-1 mutant DeltaE9 reduces amyloid plaque load,

121 uded; 18 were positive for the AD-associated presenilin 1 mutation (carriers, mean age=38) whereas 22

122 Compared to non-carriers, presymptomatic presenilin 1 mutation carriers exhibited thinner cortex

123 A cohort of 20 presenilin 1 mutation carriers underwent volumetric and

124 yloid load may be detected in presymptomatic presenilin 1 mutation carriers with (11)Carbon-Pittsburg

125 minent amyloid deposition in the striatum in presenilin 1 mutation carriers.

126 encoding the wild-type AbetaPP and the L166P presenilin 1 mutation.

127 zheimer's disease caused by the E280A single presenilin-1 mutation, thirty carriers of the mutation w

128 m persons who have or will develop AD due to Presenilin 1 mutations or Trisomy 21, but not in skin fi

129 A few individuals with presenilin 1 mutations showed increased cerebellar (11)C

130 state examination >/= 20) carriers of seven presenilin 1 mutations, comparing them with groups of co

131 All of these regions showed labeling for presenilin-1 N-terminal fragments (PS1-NTFs).

132 onverting enzyme, amyloid precursor protein, presenilin 1, neprylisin or insulin-degrading enzyme.

133 Presenilin-1 null mutation (PS1 -/-) in mice is associat

134 ribe the consequences of loss of function of presenilin 1 on these fundamental processes.

135 Abeta42) by around 70%, whereas knockdown of presenilin 1, one of the essential gamma-secretase compl

136 In Alzheimer's disease, mutations in APP or presenilin 1 or 2 cause autosomal dominant disease and t

137 Alzheimer's disease-associated mutations in presenilin 1 or 2 or amyloid precursor protein result in

138 milial Alzheimer disease (FAD) patients with presenilin-1 or -2 mutations exhibit altered processing

139 protein components (Aph-1, Pen-2, nicastrin, presenilin-1, or presenilin-2) of the gamma-secretase in

140 logue of the human gamma-secretase component presenilin 1, partially rescues the lethality associated

141 Our results demonstrate that presenilin 1 plays a much more important role in brain d

142 l AD (FAD), are associated with mutations in presenilin 1, presenilin 2, or the amyloid precursor pro

143 's disease, encompassing 25 mutations in the presenilin-1 (PS-1) gene, compared to sporadic Alzheimer

144 Presenilin-1 (PS-1) is a polytopic protein comprised of

145 Mutations in presenilin-1 (PS-1) may regulate cholinergic signaling,

146 Alzheimer's disease-linked mutations in presenilin-1 (PS-1) reportedly impair ER stress-mediated

147 The level of presenilin-1 (PS-1) was unchanged, but gamma-secretase a

148 tides, beta-site APP-cleaving enzyme (BACE), presenilin-1 (PS-1), caspase-3, and caspase-mediated cle

149 P cleaving enzymes beta-secretase [BACE] and presenilin-1 [PS-1], and putative clearance molecules, l

150 Missense mutations in presenilin 1 (PS1) and presenilin 2 (PS2) proteins are a

151 of amyloid-beta precursor protein (APP) and presenilin 1 (PS1) as well as human apoA-I (AI).

152 ch-1 and the beta-amyloid precursor protein, presenilin 1 (PS1) associates with beta-catenin.

153 Mutations in the gene encoding presenilin 1 (PS1) cause the most aggressive form of ear

154 how that amyloid precursor protein (APP) and presenilin 1 (PS1) double-transgenic (APP/PS1) mice demo

155 emory in amyloid precursor protein (APP) and presenilin 1 (PS1) double-transgenic mice, a well establ

156 We demonstrated that presenilin 1 (PS1) endocytosis requires interaction with

157 In APP mice, mutant presenilin 1 (PS1) enhances generation of Abeta42 and in

158 terminal fragment (betaCTF), and then by the Presenilin 1 (PS1) enzyme in the gamma-secretase complex

159 ent induced a decrease in the association of presenilin 1 (PS1) fragments with lipid rafts where cata

160 Mutations in the presenilin 1 (PS1) gene are the most commonly recognized

161 ces required for the expression of the human presenilin 1 (PS1) gene have been identified between -11

162 Mutations in the presenilin 1 (PS1) gene lead to early-onset Alzheimer's

163 sequences required for the expression of the presenilin 1 (PS1) gene.

164 ver 90% of the basal expression of the human presenilin 1 (PS1) gene.

165 Presenilin 1 (PS1) has been implicated in apoptosis; how

166 Mutations of human presenilin 1 (PS1) have been genetically linked to early

167 precursor (APP) and the APP-cleaving enzyme presenilin 1 (PS1) have enabled much progress in underst

168 s demonstrated previously, overexpression of presenilin 1 (PS1) holoprotein does not change the level

169 ic ablation studies have revealed a role for presenilin 1 (PS1) in embryonic neurogenesis, little inf

170 Presenilin 1 (PS1) in its active heterodimeric form is t

171 In our previous study we demonstrated that presenilin 1 (PS1) interacts with cytoplasmic linker pro

172 Recent work indicates that presenilin 1 (PS1) interacts with glycogen synthase kina

173 Presenilin 1 (PS1) is a critical component of the gamma-

174 Presenilin 1 (PS1) is a critical component of the gamma-

175 Presenilin 1 (PS1) is a critical component of the gamma-

176 by a high-molecular-weight complex of which presenilin 1 (PS1) is an essential component.

177 Presenilin 1 (PS1) is an essential gamma-secretase compo

178 Presenilin 1 (PS1) is an integral component of gamma-sec

179 Presenilin 1 (PS1) is known to be essential for the stab

180 Presenilin 1 (PS1) is linked with Alzheimer's disease bu

181 The Alzheimer's disease-linked gene presenilin 1 (PS1) is required for intramembrane proteol

182 Presenilin 1 (PS1) is required for the proteolytic proce

183 Mutations in presenilin 1 (PS1) lead to dominant inheritance of early

184 heimer's disease (AD) is caused by the E280A presenilin 1 (PS1) mutation.

185 crossed bitransgenic mice expressing APP and presenilin 1 (PS1) mutations with mice overexpressing RT

186 ne (S) and threonine (T) residues within the Presenilin 1 (PS1) N-terminus and in the large hydrophil

187 large membrane protein complexes containing presenilin 1 (PS1) or presenilin 2 (PS2), aph-1a or aph-

188 f four requisite integral membrane proteins: presenilin 1 (PS1) or presenilin 2 (PS2), nicastrin, Pen

189 FADs) are caused by the expression of mutant presenilin 1 (PS1) or presenilin 2.

190 MRK-560 displays a strong preference for the presenilin 1 (PS1) over PS2 subclass of gamma-secretases

191 Presenilin 1 (PS1) plays an essential role in intramembr

192 Presenilin 1 (PS1) plays an essential role in the gamma-

193 e activation could be affected by modulating presenilin 1 (PS1) processing.

194 Presenilin 1 (PS1) regulates beta-catenin stability; how

195 Presenilin 1 (PS1) regulates environmental enrichment (E

196 ion (GD) conditions, decreased expression of presenilin 1 (PS1) results in decreased neuronal surviva

197 Here we show that absence of presenilin 1 (PS1) results in dramatic decrease (>95%) o

198 CXCR3 in the amyloid precursor protein (APP)/presenilin 1 (PS1) transgenic mouse model of AD.

199 Using the amyloid precursor protein (APP)/presenilin 1 (PS1) transgenic mouse model, we found that

200 ssue of Neuron report that the expression of Presenilin 1 (PS1) variants, responsible for the early o

201 ransmembrane domains (TMDs) 4 and 5 of human presenilin 1 (PS1), a catalytic subunit of gamma-secreta

202 g is regulated by multiple factors including presenilin 1 (PS1), a major component of the gamma-secre

203 pecifically interacts with the C terminus of presenilin 1 (PS1), but not presenilin 2 (PS2).

204 The gamma-secretase complex, comprising presenilin 1 (PS1), PEN-2, APH-1 and nicastrin, is a mem

205 Presenilin 1 (PS1), the catalytic subunit of the gamma-s

206 To differentiate multiple activities of presenilin 1 (PS1), we generated transgenic mice express

207 gamma-Secretase, or its catalytic subunit presenilin 1 (PS1), were upregulated by exposure to eith

208 nents of the gamma-secretase complex, namely presenilin 1 (PS1)-derived fragments, mature nicastrin,

209 r's disease mapping to the catalytic subunit presenilin 1 (PS1).

210 f mutant presenilin 1 genes (PSEN1) encoding presenilin 1 (PS1)variants causes autosomal dominant for

211 u(P301L)), and physiological levels of M146V-presenilin-1 (PS1(M146V)) display extracellular amyloid-

212 approach to replace the endogenous wild-type presenilin-1 (PS1) allele with the PS1(M146V) allele in

213 Presenilin-1 (PS1) and -2 (PS2), which when mutated caus

214 Presenilin-1 (PS1) and presenilin 2 (PS2) are proposed t

215 Mutations in the gene encoding presenilin-1 (PS1) are found in approximately 80% of cas

216 Mutations in the PSEN1 gene encoding Presenilin-1 (PS1) are the predominant cause of familial

217 us work in non-neuronal cells indicates that presenilin-1 (PS1) associates with cytoskeletal elements

218 gamma-secretase was carried out by crossing presenilin-1 (PS1) floxed mice with CD4-Cre mice and PS2

219 Co-expression of C99 with mutant forms of presenilin-1 (PS1) found in familial Alzheimer's disease

220 igate the impact of the c.548G>T mutation on presenilin-1 (PS1) function in vivo, we introduced this

221 (average age 33.7 years) who carry the E280A presenilin-1 (PS1) genetic mutation for FAD.

222 In addition, a number of mutations in presenilin-1 (PS1) have been suggested to be associated

223 The role of presenilin-1 (PS1) in neuronal phosphatidylinositol 3-ki

224 Presenilin-1 (PS1) is a multifunctional protein involved

225 Presenilin-1 (PS1) is a multifunctional protein involved

226 Presenilin-1 (PS1) is the catalytic core of the aspartyl

227 Presenilin-1 (PS1) is the catalytic subunit of gamma-sec

228 es generated by cyclooxygenase-2 (COX-2) and presenilin-1 (PS1) mediate pro-inflammatory signaling an

229 red that, in amyloid precursor protein (APP)/presenilin-1 (PS1) mice (age 3-4 mo), a prominent mouse

230 ut mice with amyloid precursor protein (APP)/presenilin-1 (PS1) mice overexpressing mutant APP and PS

231 (n = 5) and symptomatic (n = 5) carriers of presenilin-1 (PS1) mutations (C410Y or A426P) that lead

232 Moreover, we find that presenilin-1 (PS1) mutations, which affect gamma-secreta

233 Here, we report that presenilin-1 (PS1) null mouse cortical neuronal cultures

234 amyloid-beta precursor protein (AbetaPP) and presenilin-1 (PS1) recapitulate several aspects of this

235 Here, we report that presenilin-1 (PS1) regulates the proteolytic activity of

236 g APP transgenes in Drosophila and mice with presenilin-1 (PS1) transgenes harboring mutations that c

237 ntly improves the cognitive functions of APP/presenilin-1 (PS1) transgenic mice.

238 tase requires an endoproteolytic cleavage in presenilin-1 (PS1) within a peptide loop encoded by exon

239 Here we show that presenilin-1 (PS1), a protein involved in Alzheimer's di

240 in genes encoding amyloid precursor protein, presenilin-1 (PS1), and presenilin 2.

241 eta-amyloid (Abeta) precursor protein (APP), presenilin-1 (PS1), and presenilin-2.

242 trin (NCT) in the extracellular (EC) domain, presenilin-1 (PS1), anterior pharynx defective 1, and pr

243 Other gamma-secretase components include presenilin-1 (PS1), APH-1, and PEN-2, all of which span

244 ase complex that has been shown to adhere to presenilin-1 (PS1), Notch, and APP.

245 Presenilin-1 (PS1), the major causative gene of familial

246 irst identified through its interaction with Presenilin-1 (PS1), the molecule most frequently mutated

247 e Cri-du-Chat and it directly interacts with presenilin-1 (PS1), the protein most frequently mutated

248 To examine the in vivo function of presenilin-1 (PS1), we selectively deleted the PS1 gene

249 the Alzheimer's disease (AD)-related protein presenilin-1 (PS1).

250 ron emission tomography (PET) imaging in the presenilin-1 (PS1)/amyloid precursor protein (APP) trans

251 ies at the interface between two subunits of presenilin-1 (PS1); however, evidence suggests the exist

252 ecifically labels the N-terminal fragment of presenilin-1 (PS1-NTF) in cell membranes as well as in l

253 ial AD (FAD; amyloid precursor protein [APP]/presenilin 1 [PS1]) ameliorated the autophagocytic defec

254 human amyloid precursor protein (APPsw) and presenilin 1 (PS1DeltaE9) genes, each independent causes

255 xpressing autosomal-dominant human AD genes, presenilin-1 (PS1DeltaE9) and amyloid precursor protein

256 mutant amyloid precursor protein (APPsw) and presenilin-1 (PS1DeltaE9) was characterized for histolog

257 ippocampal neurons derived from mice lacking presenilin 1 (Psen1(-/-) mice) or expressing a familial

258 in amyloid precursor protein (APP(Swe)) and presenilin 1 (PSEN1(M146V)) and derived cortical neurons

259 Mutations in presenilin 1 (PSEN1) are known to cause AD and change Ab

260 -related accumulation of Abeta deposition in presenilin 1 (PSEN1) E280A mutation carriers across the

261 een January and August, 2010, 18-26-year-old presenilin 1 (PSEN1) E280A mutation carriers and non-car

262 sease (FAD) associated with mutations in the presenilin 1 (PSEN1) gene.

263 Finally, we found that presenilin 1 (PSEN1) is highly coexpressed with canonica

264 Presenilin 1 (Psen1) is important for vascular brain dev

265 Familial AD is caused most commonly by presenilin 1 (PSEN1) or presenilin 2 (PSEN2) mutations,

266 ations in amyloid precursor protein (APP) or presenilin 1 (PSEN1), sporadic Alzheimer's disease (n =

267 eferred to as ABCC1), we measured N1(IC) and presenilin 1 (PSEN1), the catalytic subunit of gamma-sec

268 biomarkers are characterized and compared in presenilin 1 (PSEN1)E280A mutation carriers and noncarri

269 t, it resulted in a significant reduction of presenilin 1 (PSEN1, alias PS1), nicastrin (NCSTN) , pre

270 Mutations in the presenilin-1 (PSEN1) gene are associated with familial A

271 Mutations in the Presenilin-1 (PSEN1) gene are the major cause of familia

272 ve identified 2 new sequence variants in the presenilin-1 (PSEN1) gene promoter leading to reduced ge

273 nine insertion at codon 352 (insR352) in the presenilin-1 (PSEN1) gene was identified in the proband,

274 l dominant, highly penetrant mutation in the presenilin-1 (PSEN1) gene, and performed genome-wide ass

275 of the fully penetrant E280A mutation in the presenilin-1 (PSEN1) gene.

276 We recently reported that homozygous Presenilin-1 (Psen1) knockin (KI) mice carrying the fami

277 munoblotting, and a fluorogenic enzyme assay presenilin-1 (required for gamma-secretase activity) and

278 is of five different AD-causing mutations in presenilin-1 revealed that all result in drastic reducti

279 mutated human amyloid precursor protein and presenilin 1 show dramatic parallels to AD, although non

280 en seen to interact with the gamma-secretase presenilin 1 subunit (PS1).

281 mational changes in transmembrane domains of presenilin 1 that affect the proteolytic activity of the

282 ne substitutions in the prion protein and in presenilin 1 that underlie the development of a prion di

283 essing mutated amyloid precursor protein and presenilin-1 that develop massive cerebral Abeta loads.

284 Presenilin 1, the catalytic subunit of gamma-secretase,

285 on of Abeta(42/43) by familial AD mutants of presenilin 1, the catalytic subunit of gamma-secretase,

286 ent chaperone, cyclophilin B, from assisting presenilin 1 to fold properly, leading to its aggregatio

287 n amyloid precursor protein and mutant human presenilin-1 transgenes).

288 tration of bifunctionalized liposomes to APP/presenilin 1 transgenic mice (aged 10 months) for 3 week

289 By crossing presenilin 1 transgenic mice carrying the A246E mutation

290 Following Abeta-VLP immunizations of APP/presenilin 1 transgenic mice, a model for human AD, we o

291 isease-causing amyloid precursor protein and presenilin 1 variants, we found that coexpression of wil

292 tution at codon 206 (Gly206Ala) in exon 7 of presenilin 1 was observed in 23 individuals from 8 (42%)

293 Choosing from over 130 FAD mutations in Presenilin-1, we introduced 14 corresponding mutations a

294 reduced quantities of the processed, active presenilin 1 were observed in brains of cyclophilin B kn

295 l domain of PEN-2 prevented association with presenilin 1, whereas glycosylation in the C-terminal re

296 ate gene because beta catenin interacts with presenilin 1, which has many mutations that elevate Abet

297 iophysical and genetic studies indicate that presenilin-1, which contains the proteolytic active site

298 g proteins, and prevented the association of presenilin 1 with N-cadherin and VE-cadherin, thereby co

299 rexpression of amyloid precursor protein and presenilin 1 with Swedish and L166P mutations, respectiv

300 man, including human-specific correlation of presenilin-1 with oligodendrocyte markers, and significa