|
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 |
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 |
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 |
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 |
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 |