|
rs17125721
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We detected the E318G mutation in four FAD cases, seven sporadic AD cases and 10 control individuals with highly varying onset-ages.
|
10643802 |
2000 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Functional analysis of such cleavage defective PS2 carrying the FAD mutation Asn-141 --> Ile showed that its Abeta42 producing activity was strongly reduced compared with cleavage-competent FAD PS2.
|
10575009 |
1999 |
|
rs63749805
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines.
|
10400232 |
1999 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Functional analysis of such cleavage defective PS2 carrying the FAD mutation Asn-141 --> Ile showed that its Abeta42 producing activity was strongly reduced compared with cleavage-competent FAD PS2.
|
10575009 |
1999 |
|
rs63749805
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We describe a novel Polish PS1 mutation of Pro117Leu, associated with the earliest average age of onset and death so far reported in a PS-linked, FAD kindred.
|
9507958 |
1998 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The N141I missense mutation in presenilin (PS) 2 is tightly linked with a form of autosomal dominant familial Alzheimer's disease (AD) in the Volga German families.
|
9648880 |
1998 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These results strongly suggest that the PS2 mutation (N141I) linked to FAD alters the metabolism of A beta/betaAPP to foster the production of the form of A beta that most readily deposits in amyloid plaques.
|
9050898 |
1997 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These results strongly suggest that the PS2 mutation (N141I) linked to FAD alters the metabolism of A beta/betaAPP to foster the production of the form of A beta that most readily deposits in amyloid plaques.
|
9050898 |
1997 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss.
|
22531416 |
2012 |
|
rs781049584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We validated our findings in Ca(2+) imaging experiments with primary fibroblasts obtained from an FAD patient possessing mutant PS1-A246E.
|
17431506 |
2007 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The presenilin 2 M239I mutation associated with Familial Alzheimer's Disease reduces Ca2+ release from intracellular stores.Neurobiol.Dis.15/2, 269-278].
|
15755689 |
2005 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ release from intracellular stores.
|
15006697 |
2004 |
|
rs781049584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Co-expression of a human presenilin-1 (PS1) transgene containing the A246E FAD mutation accelerates deposition and also favors-at least initially-accumulation of A beta(42) so that the A beta(2):A beta(40) ratio of peptides from 7- to 12-month-old APP695SWE x PS1A246E animals is significantly elevated above that observed throughout the lifetime of APP695SWE mice.
|
15312963 |
2004 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I.
|
10822446 |
2000 |
|
rs781049584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We now report that both human wild-type and A246E PS1 efficiently rescue the phenotypes observed in PS1(-/-) embryos, findings consistent with the view that FAD-linked PS1 mutants retain sufficient normal function during mammalian embryonic development.
|
9539132 |
1998 |
|
rs781049584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In this report, we demonstrate that transgenic animals that coexpress a FAD-linked human PS1 variant (A246E) and a chimeric mouse/human APP harboring mutations linked to Swedish FAD kindreds (APP swe) develop numerous amyloid deposits much earlier than age-matched mice expressing APP swe and wild-type Hu PS1 or APP swe alone.
|
9354339 |
1997 |
|
rs193922916
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Furthermore, A673V mutation resulted in stronger dimerization between mutant and wild-type APP, enhanced the lysosomal degradation of the mutant APP, and inhibited γ-secretase cleavage of the mutant C99 to generate amyloid β protein, leading to recessively inherited Alzheimer's disease (AD).
|
28626014 |
2017 |
|
rs193922916
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), the APP gene harbors pathogenic variations such as the Swedish (K670N/M671L), Leuven (E682K), and A673V mutations, all of which decrease Aβ(11-40) generation, whereas the protective Icelandic mutation (A673T) increases generation of Aβ(11-40).
|
27687728 |
2016 |
|
rs193922916
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Therefore, the neuropathological picture of familial AD caused by the APP recessive mutation A673V presents distinctive characteristics compared to sporadic AD or familial AD inherited as a dominant trait.
|
20842367 |
2010 |
|
rs63751037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
|
30598257 |
2019 |
|
rs63750001
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1.
|
27789396 |
2016 |
|
rs63750847
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), the APP gene harbors pathogenic variations such as the Swedish (K670N/M671L), Leuven (E682K), and A673V mutations, all of which decrease Aβ(11-40) generation, whereas the protective Icelandic mutation (A673T) increases generation of Aβ(11-40).
|
27687728 |
2016 |
|
rs63750001
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we generated Psen1 knockin (KI) mice carrying the FAD mutation L435F or C410Y.
|
25741723 |
2015 |
|
rs63750847
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The A598T mutation of amyloid precursor protein APP is linked to a reduction in the incidence rate of Alzheimer's disease (AD).
|
24646423 |
2014 |
|
rs761592007
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss.
|
22531416 |
2012 |