ライフサイエンスコーパス: familial Alzheimer's disease

1 MRI scans that predate the clinical onset of familial Alzheimer's disease.

2 have been genetically linked to early-onset familial Alzheimer's disease.

3 responsible for the majority of early onset familial Alzheimer's disease.

4 senilins (PS) 1 and 2 are the major cause of familial Alzheimer's disease.

5 n of the loop has been demonstrated to cause familial Alzheimer's disease.

6 old but not in young Tg2576 mice, a model of familial Alzheimer's disease.

7 and amyloid precursor protein (APP) lead to familial Alzheimer's disease.

8 ncentrations) and mutations in PS1 linked to familial Alzheimer's disease.

9 a protein which carries mutations that cause familial Alzheimer's disease.

10 ecursor protein may mediate neurotoxicity in Familial Alzheimer's Disease.

11 s in Presenilin-1 (PS1) are a major cause of familial Alzheimer's disease.

12 association between PS1 and beta-catenin in familial Alzheimer's disease.

13 ggressive nature of presenilin-1 mutation in familial Alzheimer's disease.

14 mutated in most cases of autosomal dominant familial Alzheimer's disease.

15 te with the majority of early onset cases of familial Alzheimer's disease.

16 (APP) gene are associated with some forms of Familial Alzheimer's Disease.

17 which shows genetic linkage with late onset familial Alzheimer's disease.

18 enilin 1 and 2, account for most early-onset familial Alzheimer's disease.

19 mplicated in the pathogenesis of early-onset familial Alzheimer's disease.

20 unt for the majority of cases of early-onset familial Alzheimer's disease.

21 linked to about 25% of cases of early-onset familial Alzheimer's disease.

22 st common and aggressive form of early onset familial Alzheimer's disease.

23 families with early onset autosomal dominant familial Alzheimer's disease.

24 unt for the majority of early onset cases of familial Alzheimer's disease.

25 aggressive forms of early-onset (< 60 years) familial Alzheimer's disease.

26 o the earlier age of onset characteristic of familial Alzheimer's disease.

27 ry binding performance only in patients with familial Alzheimer's disease.

28 attern of amyloid-beta(4)(2) accumulation in familial Alzheimer's disease.

29 ) accumulation in cortical areas compared to familial Alzheimer's disease.

30 eta(4)(0)) accumulation in both sporadic and familial Alzheimer's disease.

31 the presymptomatic and symptomatic stages of familial Alzheimer's disease.

32 with Down syndrome (DS) that can also cause familial Alzheimer's disease.

33 participants) of APOE and hereditary CAA or familial Alzheimer's disease.

34 (APP) mutations associated with early-onset familial Alzheimer's disease.

35 rontotemporal dementia and both sporadic and familial Alzheimer's disease.

36 id-modifying treatments in the prevention of familial Alzheimer's disease.

37 precursor protein (APP) are associated with familial Alzheimer's disease.

38 presenilin 2 are rare causes of early onset familial Alzheimer's disease.

39 may not be as suitable a reference region in familial Alzheimer's disease.

40 ing deficits may be a preclinical marker for familial Alzheimer's disease.

41 n the presenilin genes are the main cause of familial Alzheimer's disease.

42 PS1), the protein most frequently mutated in familial Alzheimer's disease.

43 lated from rare individuals with early-onset familial Alzheimer's disease.

44 mbrane aspartyl protease, are known to cause familial Alzheimer's disease.

45 A sample of 19 patients with familial Alzheimer's disease, 18 asymptomatic carriers a

46 etected with PET and FDG in Huntington's and familial Alzheimer's diseases 7 and 5 y, respectively, b

47 In familial Alzheimer's disease, Abeta is excessively produ

48 enilin (PSEN1 and PSEN2) genes are linked to familial Alzheimer's disease (AD) and cause loss of its

49 Most early onset cases of familial Alzheimer's disease (AD) are caused by mutation

50 The majority of familial Alzheimer's disease (AD) cases are caused by mu

51 Greater than 90% of familial Alzheimer's disease (AD) is linked to mutations

52 ursor protein (APP) and presenilin (PSEN) to familial Alzheimer's disease (AD) is well established.

53 P) gene alter APP processing, either causing familial Alzheimer's disease (AD) or protecting against

54 al, and occipital neocortices in 40 cases of familial Alzheimer's disease (AD) or sporadic (idiopathi

55 Both sporadic and familial Alzheimer's disease (AD) patients exhibit incre

56 ptide) is invariably elevated in early-onset familial Alzheimer's disease (AD), and it is also increa

57 idues 21-23, which are linked to early onset familial Alzheimer's disease (AD), are primarily associa

58 es (PS-1 and PS-2) are linked to early onset familial Alzheimer's disease (AD), but the mechanisms by

59 (ASYN) in neurodegenerative disease such as familial Alzheimer's disease (AD), dementia with Lewy bo

60 cidation of the genetic basis of early-onset familial Alzheimer's disease (AD), the etiology of spora

61 ly APP and not the APLPs have been linked to familial Alzheimer's disease (AD), this data should help

62 dence and earlier age of onset of late onset familial Alzheimer's disease (AD), whereas apoE2 may hav

63 in human PS1 and PS2 homologs are a cause of familial Alzheimer's disease (AD).

64 ilin-1 (PS1) gene is a cause of early- onset familial Alzheimer's disease (AD).

65 n genes that process APP are correlated with familial Alzheimer's disease (AD).

66 s in the Abeta precursor protein (APP) cause familial Alzheimer's disease (AD).

67 cursor protein (APP) are the major causes of familial Alzheimer's disease (AD).

68 Autosomal dominant familial Alzheimer's disease (ADAD) is a rare disorder w

69 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD).

70 Mutations in the presenilins that cause familial Alzheimer's disease alter the activity of these

71 presenilin-1 and -2 gene are associated with familial Alzheimer's disease and are thought to alter ga

72 wa mutation, is associated with early onset, familial Alzheimer's disease and cerebral amyloid angiop

73 resenilin-1 (PSEN1) gene are associated with familial Alzheimer's disease and frontotemporal dementia

74 ntribute to the understanding of preclinical familial Alzheimer's disease and help set the stage for

75 Mutant human presenilins cause early-onset familial Alzheimer's disease and render cells susceptibl

76 Presenilin mutations give rise to familial Alzheimer's disease and result in elevated prod

77 ization to the neuropathology in early-onset familial Alzheimer's disease and sporadic Alzheimers' di

78 lobes are vulnerable to the early stages of familial Alzheimer's disease and their damage is associa

79 deletion in exon 9) that is associated with familial Alzheimer's disease and which does not require

80 lar Abeta peptide as well as mutants causing familial Alzheimer's disease, and find that all but one

81 s of familial amyotrophic lateral sclerosis, familial Alzheimer's disease, and Huntington's disease a

82 However, rare forms of familial Alzheimer's disease are associated with mutatio

83 Most cases of early-onset familial Alzheimer's disease are caused by mutations in

84 Most cases of autosomal-dominant familial Alzheimer's disease are linked to mutations in

85 ) and presenilin-2 (PS2), the major genes of familial Alzheimer's disease, are homologous to sel-12,

86 rom cases with dementia with Lewy bodies and familial Alzheimer's disease associated with known PSEN1

87 Familial Alzheimer's disease-associated mutations in pre

88 event that also occurs in the absence of the familial Alzheimer's disease-associated mutations in PS2

89 fragment are associated with the presence of familial Alzheimer's disease-associated mutations.

90 The familial Alzheimer's disease-associated protein Presenil

91 A familial Alzheimer's disease-associated PS-1 mutant, PS-

92 Several familial Alzheimer's disease-associated PS1 mutations ha

93 dence of genetic heterogeneity in late-onset familial Alzheimer's disease, based on sex of affected p

94 d primary fibroblasts from two patients with familial Alzheimer's disease, both caused by a duplicati

95 ations in presenilins are the major cause of familial Alzheimer's disease, but the pathogenic mechani

96 amples of frontal neocortex from early-onset familial Alzheimer's disease cases (PS1 and PS2), late-o

97 ears of age) of autopsy-confirmed late-onset familial Alzheimer's disease cases and 90 age-matched co

98 cortex, the superior temporal sulcus, of 30 familial Alzheimer's disease cases carrying 10 different

99 The majority of familial Alzheimer's disease cases have been attributed

100 of 72 individuals affected with early-onset familial Alzheimer's disease caused by an autosomal domi

101 kindred with early-onset autosomal dominant familial Alzheimer's disease caused by an intronic prese

102 Twenty two patients with familial Alzheimer's disease caused by the E280A single

103 with 85Dbo transgenic mice, which coexpress familial Alzheimer's disease-causing amyloid precursor p

104 amma-secretase complex frequently mutated in familial Alzheimer's disease, clear from glutamatergic t

105 These findings imply that in familial Alzheimer's disease cognitive decline predates

106 etween Aug 1 and Dec 6, 2011, members of the familial Alzheimer's disease Colombian kindred aged 18-6

107 cal signs and symptoms were more frequent in familial Alzheimer's disease compared with sporadic Alzh

108 r of mutations in the Abeta sequence lead to familial Alzheimer's disease, congophilic amyloid angiop

109 tion and other neuropathological features in familial Alzheimer's disease due to autosomal dominant m

110 e affected in patients who meet criteria for familial Alzheimer's disease due to the mutation E280A o

111 rain is increased in 54 cases of early-onset familial Alzheimer's disease, encompassing 25 mutations

112 EN1 and PSEN2) cause a subset of early-onset familial Alzheimer's disease (EO-FAD).

113 otype identified from a Swedish kindred with familial Alzheimer's disease, evaluation of the cellular

114 the most common form of dominant early-onset familial Alzheimer's disease (FAD) and are associated wi

115 senilin 1 (PS1) are linked to early onset of familial Alzheimer's disease (FAD) and are shown to fost

116 s in presenilins (PS) are the major cause of familial Alzheimer's disease (FAD) and have been associa

117 Autosomal dominant forms of familial Alzheimer's disease (FAD) are associated with i

118 The vast majority of pedigrees with familial Alzheimer's disease (FAD) are caused by inherit

119 Most cases of early-onset familial Alzheimer's disease (FAD) are caused by mutatio

120 ial, early-onset autosomal dominant forms of familial Alzheimer's disease (FAD) are caused by mutatio

121 The majority of early-onset cases of familial Alzheimer's disease (FAD) are linked to mutatio

122 te with a small subset of autosomal dominant familial Alzheimer's disease (FAD) cases wherein deposit

123 t are mutated in the majority of early onset familial Alzheimer's disease (FAD) cases.

124 PS2) account for the majority of early-onset familial Alzheimer's disease (FAD) cases.

125 Recently it was proposed that the familial Alzheimer's disease (FAD) causing presenilin (P

126 s simplex virus (HSV) vectors expressing the familial Alzheimer's disease (FAD) gene presenilin-1 (PS

127 gh an association between the product of the familial Alzheimer's disease (FAD) gene, presenilin 1 (P

128 amyloid precursor protein (APP) genes cause familial Alzheimer's disease (FAD) in a nearly fully pen

129 -protein precursor (APP) mutations linked to familial Alzheimer's disease (FAD) increase the extracel

130 Familial Alzheimer's disease (FAD) is characterized by a

131 inking presenilin-1 (PS-1) gene mutations to familial Alzheimer's disease (FAD) is uncertain, but has

132 tic (E22G), Dutch (E22Q), and Flemish (A21G) familial Alzheimer's disease (FAD) mutants for any chang

133 tor, upregulation of Abeta42 production by a familial Alzheimer's disease (FAD) mutation in the APP g

134 lin-1 (Psen1) knockin (KI) mice carrying the familial Alzheimer's disease (FAD) mutation L435F or C41

135 Mouse models with familial Alzheimer's disease (FAD) mutations exhibit amy

136 Familial Alzheimer's disease (FAD) mutations in APP caus

137 ess human PS1 variants linked to early-onset familial Alzheimer's disease (FAD) neither exhibit EE-in

138 regate with approximately 25% of early onset familial Alzheimer's disease (FAD) pedigrees.

139 ected members of the majority of early-onset familial Alzheimer's disease (FAD) pedigrees.

140 ), cause dementia in a subset of early-onset familial Alzheimer's disease (FAD) pedigrees.

141 cosegregate with the majority of early-onset familial Alzheimer's disease (FAD) pedigrees.

142 penetrant genetic alterations that result in familial Alzheimer's disease (FAD) provides a unique mod

143 tivity, and APP with mutations linked to the familial Alzheimer's disease (FAD) provides substantiall

144 atic activity is reduced in cells expressing familial Alzheimer's disease (FAD) PS1 mutations compare

145 e mutations with autosomal dominant forms of familial Alzheimer's disease (FAD) suggest important rol

146 ilin genes (PS1 and PS2) causing early-onset familial Alzheimer's disease (FAD) was assessed in a pop

147 senilin-1 (PS1) are the predominant cause of familial Alzheimer's disease (FAD), but the underlying m

148 S2), the leading cause of autosomal dominant familial Alzheimer's disease (FAD), cause highly specifi

149 an early onset inherited disorder that, like familial Alzheimer's disease (FAD), is characterized by

150 In familial Alzheimer's disease (FAD), missense point mutat

151 In dominantly inherited familial Alzheimer's disease (FAD), point mutations V642

152 Here we show that PS1, a protein involved in familial Alzheimer's disease (FAD), promotes cell surviv

153 e the development of a prion disorder and of familial Alzheimer's disease (fAD), respectively.

154 In familial Alzheimer's disease (FAD), three mutations V642

155 Here we report that familial Alzheimer's disease (FAD)-associated presenilin

156 Familial Alzheimer's disease (FAD)-causing mutant presen

157 ximal phenotype observed in cells expressing familial Alzheimer's disease (FAD)-causing mutant presen

158 s of wild type and transgenic mice harboring familial Alzheimer's disease (FAD)-linked APPswe/PS1Delt

159 In contrast, familial Alzheimer's disease (FAD)-linked mutant PS1 or

160 vesicles containing beta APP is impaired in familial Alzheimer's disease (FAD)-linked PS1 mutant cel

161 lead to dominant-inheritance of early-onset familial Alzheimer's disease (FAD).

162 ction of beta-amyloid 42 (Abeta42) and cause familial Alzheimer's disease (FAD).

163 n (PS) gene mutations that cause early-onset familial Alzheimer's disease (FAD).

164 S1 molecule are linked to autosomal dominant familial Alzheimer's disease (FAD).

165 S1), the molecule most frequently mutated in familial Alzheimer's Disease (FAD).

166 n presenilin genes are linked to early onset familial Alzheimer's disease (FAD).

167 account for approximately 50% of early-onset familial Alzheimer's disease (FAD).

168 s the major gene responsible for early-onset familial Alzheimer's disease (FAD).

169 , are the major association with early-onset familial Alzheimer's disease (FAD).

170 enilin-1 (PSEN1) gene are the major cause of familial Alzheimer's disease (FAD).

171 nd PS2, cause a major portion of early onset familial Alzheimer's disease (FAD).

172 ed to the majority of cases with early-onset familial Alzheimer's disease (FAD).

173 14, and 21 cause autosomal dominant forms of familial Alzheimer's disease (FAD).

174 appear to cause the majority of early-onset familial Alzheimer's disease (FAD).

175 )variants causes autosomal dominant forms of familial Alzheimer's disease (FAD).

176 alytic subunit of gamma-secretase, result in familial Alzheimer's disease (FAD).

177 resenilins (PS) account for most early-onset familial Alzheimer's disease (FAD).

178 ne are the most commonly recognized cause of familial Alzheimer's disease (FAD).

179 Overexpression of the familial Alzheimer's disease gene Presenilin 2 (PS2) in

180 The familial Alzheimer's disease gene product amyloid beta p

181 The familial Alzheimer's disease gene product amyloid beta p

182 The familial Alzheimer's disease gene product beta-amyloid (

183 The familial Alzheimer's disease gene products, presenilin-1

184 ALG-3, a truncated form of the familial Alzheimer's disease gene PS2, confers resistanc

185 runcated mouse homologue of the chromosome 1 familial Alzheimer's disease gene PS2, rescues T hybrido

186 complementary DNA that is homologous to the familial Alzheimer's disease gene STM2, rescues a T cell

187 PS2, the chromosome 1 familial Alzheimer's disease gene, has been shown to be

188 asing amyloid-beta ('TASTPM', transgenic for familial Alzheimer's disease genes APP/PSEN1).

189 We observed that familial Alzheimer's disease had disproportionate amyloi

190 Familial Alzheimer's disease had greater striatal tau pa

191 e, three non-demented individuals at risk of familial Alzheimer's disease had scans 6-14 months apart

192 The majority of cases with early onset familial Alzheimer's disease have been attributed to mut

193 The four genes so far implicated in familial Alzheimer's disease have each been shown to ele

194 Amyloid imaging studies of presymptomatic familial Alzheimer's disease have revealed the striatum

195 e significantly altered in both sporadic and familial Alzheimer's disease; however, such changes were

196 (APP) gene are associated with rare cases of familial Alzheimer's disease; however, the normal functi

197 Mutations in PS1 that are associated with familial Alzheimer's disease impair the ability of PS1 t

198 oter in CNS neurons that causes early onset, familial Alzheimer's disease in humans.

199 We discuss a pathogenic pathway for familial Alzheimer's disease in which defective presenil

200 and PS2 that are associated with early-onset familial Alzheimer's disease increase the production of

201 that expression of APP mutations that cause familial Alzheimer's disease increases the intracellular

202 ecursor protein (APP), whose mutations cause familial Alzheimer's disease, interacts with the synapti

203 The most common cause of familial Alzheimer's disease is mutation of the genes en

204 Early-onset familial Alzheimer's disease is the most aggressive form

205 1 (PS1), mutated in pedigrees of early-onset familial Alzheimer's disease, is a polytopic integral me

206 nse mutation of APP, implicated in a form of familial Alzheimer's disease, is adjacent to this latter

207 hich was discovered in a Swedish family with familial Alzheimer's disease, leads to increased beta-se

208 ocytic abnormalities distinguish subtypes of familial Alzheimer's disease linked to APP mutations fro

209 A beta alloforms, including those containing familial Alzheimer's disease-linked amino acid substitut

210 requirements for "replacement" we expressed familial Alzheimer's disease-linked and experimental del

211 ralleling the observation that expression of familial Alzheimer's disease-linked mutant PS1 compromis

212 Transgene expression of familial Alzheimer's disease-linked mutants of beta-amyl

213 ostasis is a common molecular consequence of familial Alzheimer's disease-linked presenilin mutations

214 this report, we examine the activity of two familial Alzheimer's disease-linked PS1 variants on the

215 esenilin 1 (Psen1(-/-) mice) or expressing a familial Alzheimer's disease-linked Psen1 mutation (Psen

216 rge family-based and case-control late-onset familial Alzheimer's disease (LOAD) samples of SOX5 vari

217 a(4)(2) accumulation in subcortical areas in familial Alzheimer's disease may be driven by APP and it

218 oidosis and improved cognitive function in a familial Alzheimer's disease mouse model.

219 overexpressing either wild-type PSEN1 or the Familial Alzheimer's disease mutant PSEN1-Delta9 (PS1-mu

220 Neuronal expression of familial Alzheimer's disease-mutant human amyloid precur

221 ta-catenin (PS1Deltacat) or by two different familial Alzheimer's disease mutants.

222 s and acceleration of disease progression in familial Alzheimer's disease mutation carriers.

223 Furthermore, we show that the PS1M146V familial Alzheimer's disease mutation exhibits a partial

224 amyloid precursor protein and had the P264L familial Alzheimer's disease mutation in presenilin-1.

225 ition in transgenic mice that coexpress five familial Alzheimer's disease mutations (5XFAD mice).

226 in mouse model that incorporates the Swedish familial Alzheimer's disease mutations and converts mous

227 Familial Alzheimer's disease mutations in APP-CTFs did n

228 Familial Alzheimer's disease mutations in the presenilin

229 mer's disease, carry the Swedish and Indiana familial Alzheimer's disease mutations of the human amyl

230 ockets to investigate the mechanism by which familial Alzheimer's disease mutations within APP increa

231 to residue 23 of Abeta, thus differing from familial Alzheimer's disease mutations, which occur outs

232 de (Abeta) domain and expressing the Swedish familial Alzheimer's disease mutations.

233 eta42:Abeta40 ratios shown to correlate with familial Alzheimer's disease mutations.

234 ubcortical areas, from post-mortem brains of familial Alzheimer's disease (n = 10; age at death: 50.0

235 rtue of fully penetrant genetic alterations (familial Alzheimer's disease or FAD) provide a model in

236 e subjects in our centre who have late onset familial Alzheimer's disease or mutations in presenilin

237 Relative to controls, patients with familial Alzheimer's disease performed poorly on both me

238 ippocampal and whole-brain volumes change as familial Alzheimer's disease progresses from the presymp

239 Recent advances in the genetics of familial Alzheimer's disease provide direction for thera

240 in cell lines expressing well characterized familial Alzheimer's disease PSEN1 mutations, L166P and

241 esenilin proteins, which are associated with familial Alzheimer's disease, regulate Notch signaling.

242 city and spatial memory in mice that express familial Alzheimer's disease-related mutations in APP an

243 mutant forms of presenilin-1 (PS1) found in familial Alzheimer's disease resulted in a characteristi

244 sAD patient exhibited the phenotypes seen in familial Alzheimer's disease samples.

245 e of mutant presenilin or betaAPP alleles in familial Alzheimer's disease subjects.

246 Enhanced aggregation in Abeta with familial Alzheimer's disease substitutions may result fr

247 me that has been extensively investigated in familial Alzheimer's disease) to have an integral role i

248 ease required both PrP(C) and Fyn, and human familial Alzheimer's disease transgene-induced convulsiv

249 A PS2 mutation associated with familial Alzheimer's disease was found to generate a mol

250 ic individuals at risk of autosomal dominant familial Alzheimer's disease was performed to assess the

251 hort-term memory binding is also impaired in familial Alzheimer's disease, whether this impairment ex

252 42/Abeta40 production ratio is a hallmark of familial Alzheimer's disease, which can be caused by mut

253 The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inh

254 ssociated with dementia with Lewy bodies and familial Alzheimer's disease with concomitant alpha-synu