|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.
|
21159009 |
2011 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We used a neuropsychological battery and a short-term memory binding task to assess patients with sporadic Alzheimer's disease (Experiment 1), familial Alzheimer's disease (Experiment 2) due to the mutation E280A of the Presenilin-1 gene and asymptomatic carriers of the mutation.
|
21435348 |
2011 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ERP generator anomalies in presymptomatic carriers of the Alzheimer's disease E280A PS-1 mutation.
|
19650138 |
2010 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The impact of celastrol on brain Abeta accumulation was tested in a transgenic mouse model of AD overexpressing the human APP695sw mutation and the presenilin-1 mutation M146L (Tg PS1/APPsw) by immunostaining and ELISAs.
|
20211007 |
2010 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Presenilin-1 280Glu-->Ala mutation alters C-terminal APP processing yielding longer abeta peptides: implications for Alzheimer's disease.
|
18317569 |
2008 |
|
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 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
DNA was available from 114 carriers of the E280A PS1 mutation, including 52 subjects with AD.
|
12891668 |
2003 |
|
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We examined the brains of 12-month-old singly and doubly transgenic mice overexpressing mutant amyloid precursor protein (APP(swe)) and/or presenilin-1 (PS1(M146L)) to investigate the effects of these AD-related genes on plaque and tangle pathology, astrocytic expression, and the CBF projection system.
|
11476589 |
2001 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
|
9298817 |
1997 |
|
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 |
|
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 |
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 |
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 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 |
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
|
10643802 |
2000 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
|
9851443 |
1998 |
|
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 |
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 |
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 |