|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The a posteriori diagnosis of AD is supported by the evidence of the causative genetic mutation PSEN1-Met146Leu as well as neuropathological AD features in her genealogically proven descendants.
|
27730373 |
2016 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines.
|
11311782 |
2001 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To test the hypothesis that calcium-related mechanisms, such as changes in calcium buffering, are associated with alterations in LTP and memory, we utilized in vitro experimental paradigms of LTP in hippocampal slices obtained from the PS1-M146V transgenic mouse model of Alzheimer's disease (AD).
|
20399254 |
2010 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In contrast, all PSEN1 mutations that have been used to accelerate pathological changes in AD models strongly attenuated the Aβ42-lowering activity of GSMs with two exceptions (M146L, A246E).
|
21091478 |
2011 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we investigated the effects of long-term (9-month) treatment with pioglitazone (PIO; 20 mg/kg/d) in two animal models of Alzheimer's disease (AD)-related neural dysfunction and pathology: the PS1-KI(M146V) (human presenilin-1 (M146V) knock-in mouse) and 3xTg-AD (triple transgenic mouse carrying AD-linked mutations) mice.
|
23254291 |
2012 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism.
|
15622541 |
2005 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, CRMP2 phosphorylation at the Cdk5 and GSK3 sites is increased in cortex and hippocampus of the triple transgenic mouse [presenilin-1 (PS1)(M146V)KI; Thy1.2-amyloid precursor protein (APP)(swe); Thy1.2tau(P301L)] that develops AD-like plaques and tangles, as well as the double (PS1(M146V)KI; Thy1.2-APP(swe)) transgenic mouse.
|
17683481 |
2007 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort.
|
15003276 |
2004 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
These findings suggest that the Glu318Gly mutation may work as a genetic risk factor for Alzheimer's disease.
|
11755019 |
2002 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A meta-analysis was performed to assess PSEN1 gene polymorphisms (rs1800839 and rs17125721) in Alzheimer's disease (AD) risk.
|
28821390 |
2017 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The E318G mutation has not an assessed pathogenic function, but some data have highlighted a role as a risk factor for AD in a predisposed familiar background.
|
18525293 |
2008 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
|
9851443 |
1998 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Analyses in additional case-control datasets will be required to understand fully the effect of E318G on Alzheimer's disease status.
|
27357204 |
2016 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
|
23990795 |
2013 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
|
10643802 |
2000 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Our follow-up of this family may help elucidate E318G's role in AD and globally points to a null effect of this variant.
|
30381075 |
2019 |
|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.
|
24418614 |
2014 |
|
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 |
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 |
|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer's disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein.
|
21538175 |
2011 |
|
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 |
Neurons from mutant hiPSC lines express PSEN1-A246E mutations themselves and show AD-like biochemical features, that is, amyloidogenic processing of amyloid precursor protein (APP) indicated by an increase in β-amyloid (Aβ)42/Aβ40 ratio.
|
25027006 |
2014 |
|
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 |
|
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 |
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 |