|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
PS1/A246E mice mimic to some extent pre-symptomatic Alzheimer's disease neuropathology, useful for studying early neurochemical changes often inaccessible in clinical studies.
|
19056437 |
2009 |
|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We also introduced the human Abeta(42) monomer gene vaccine into AD double transgenic mice APPswe/PSEN1(A246E).
|
15596606 |
2004 |
|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Transgenic mice carrying both the human amyloid precursor protein (APP) with the Swedish mutation and the presenilin-1 A246E mutation (APP/PS1 mice) develop Alzheimer's disease-like amyloidbeta protein (Abeta) deposits around 9 months of age.
|
14678749 |
2003 |
|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To test whether oxidative stress is an inherent property of AD tissues, the ability of cultured fibroblasts bearing the AD Presenilin-1 246 Ala-->Glu mutation to handle reactive oxygen species (ROS) was compared to controls.
|
11068175 |
2000 |
|
rs765670175
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The best studied N141I mutation produces an Alzheimer's disease phenotype with a wide range of onset ages overlapping both early and late onset Alzheimer's disease, often associated with seizures, high penetrance and typical Alzheimer's disease neuropathology.
|
20375137 |
2010 |
|
rs765670175
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Twenty-five familial AD cases with 9 known PSEN 1 mutations and 14 familial AD cases with a single PSEN 2 mutation (N141I) were examined for LBP using alpha-synuclein immunohistochemistry and sampling of multiple brainstem and cortical regions.
|
16533963 |
2006 |
|
rs765670175
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This study demonstrates for the first time that COX-2 may be a downstream effector of mutant N141I PS2-mediated apoptotic cell death and that inhibition of COX-2 may neuroprotect in AD through modulation of a GSK-3beta-beta-catenin-mediated response.
|
16331303 |
2006 |
|
rs765670175
|
|
|
0.060 |
GeneticVariation |
BEFREE |
BrdU labeling was decreased in cells expressing presenilin-1 (PS1), presenilin-2 (PS2), an Alzheimer's disease-associated missense mutation PS2(N141I), and the carboxyl-terminally deleted PS2 construct PS2(166aa), compared with mock and neurofilament-light (NF-L) transfected cells.
|
10393846 |
1999 |
|
rs765670175
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds.
|
9225696 |
1997 |
|
rs765670175
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).
|
9334350 |
1997 |
|
rs63750265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In order to generate a better model for Alzheimer's disease (AD), the APP21 rat line was used to generate double transgenic line that over-expressed Presenilin 1 (PS1) with L166P mutation in addition to APP transgene (APP + PS1 line).
|
27388605 |
2016 |
|
rs63750301
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Using a newly developed ELISA for Aβ modified at glutamate 3 with a pyroglutamate (pE3Aβ), brain pE3Aβ was characterized in human AD in an AD mouse model harboring double knock-in amyloid precursor protein (APP)-KM670/671NL and presenilin 1 (PS1)-P264L (APP/PS1-dKI) mutations, and in a second mouse model with transgenic overexpression of human APP695 with APP-KM670/671NL (Tg2576).
|
24158021 |
2014 |
|
rs63750265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To model amyloid deposition in AD, we generated a new mouse line based on the presence of two copies of the genomic region encoding human wild-type AβPP as well as a mutation (L166P) in the murine Psen1.
|
22874668 |
2013 |
|
rs63750265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Interestingly, the AD-associated PS1(L166P) variant revealed a partial loss of γ-secretase function, resulting in the decreased production of endogenous Aβ40 and an increased Aβ42/40 ratio.
|
22510327 |
2012 |
|
rs63750301
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This study is one of few reports of AD siblings possessing the same mutation but exhibiting different clinical phenotypes in a Japanese family possessing a P264L mutation in the PSEN1 gene.
|
22572737 |
2012 |
|
rs63750301
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To investigate the consequences of genetic mutation of AD on oxidative damages and production of MnSOD during neuronal development, we used primary neurons from new born wild-type (WT/WT) and amyloid precursor protein (APP) (NLh/NLh) and presenilin 1 (PS1) (P264L) knock-in mice (APP/PS1) which incorporated humanized mutations in the genome.
|
18353561 |
2008 |
|
rs63750265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we have investigated the previously uncharacterized, very aggressive FAD mutation L166P that causes onset of AD in adolescence.
|
12048239 |
2002 |
|
rs63750301
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Stress-responsive MAP kinase pathways were activated in the brain of the Tg2576/PS1(P264L) AD model, and this activation was coincident with the age-dependent increase in amyloid deposition, tau phosphorylation, and loss of synaptophysin.
|
11978814 |
2002 |
|
rs63750082
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We identified two novel mutations of <i>PSEN1</i> (Y256N and H214R) in samples from these families, and a <i>de novo</i> mutation of <i>PSEN1</i> (G206V) in a patient with very early-onset sporadic Alzheimer's disease.
|
31440394 |
2019 |
|
rs63750083
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Sanger sequencing confirmed homozygosity for the A431E variant in PSEN1, which is a known pathogenic variant causing autosomal dominant Alzheimer's dementia.
|
30716424 |
2019 |
|
rs63749824
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1.
|
27345973 |
2016 |
|
rs63749824
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three of 12 noncarriers (25%) from the PSEN1 A79V family are potential phenocopies as they also developed AD dementia (median age at onset, 76.0 years).
|
27454811 |
2016 |
|
rs63749824
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We previously generated an induced pluripotent stem cell (iPSC) line from an AD patient carrying an A79V mutation in PSEN1 as an in vitro disease model.
|
27879212 |
2016 |
|
rs63750082
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The frequency and clinical and pathological characteristics associated with the Gly206Ala presenilin 1 (PSEN1) mutation in Puerto Rican and non-Puerto Rican Hispanics were evaluated at the University of Pennsylvania's Alzheimer's Disease Center.
|
23114514 |
2013 |
|
rs63750004
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we present a clinical and neuropathological description of a Swedish family with an I143T mutation in the PSEN1 gene, which gives rise to a severe form of AD.
|
20628413 |
2010 |