Alzheimer's Disease
|
|
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 |
Alzheimer's Disease
|
|
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 |
Alzheimer's Disease
|
|
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 |
Alzheimer's Disease
|
|
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 |
Alzheimer's Disease
|
|
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 |
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).
|
9334350 |
1997 |
Alzheimer Disease, Early Onset
|
|
0.030 |
GeneticVariation
|
BEFREE |
We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) of the PSEN2 gene.
|
19073399 |
2008 |
Alzheimer Disease, Early Onset
|
|
0.030 |
GeneticVariation
|
BEFREE |
Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree.
|
10732806 |
1998 |
Alzheimer Disease, Early Onset
|
|
0.030 |
GeneticVariation
|
BEFREE |
Moreover, the AD- associated PS-2 missense mutation (N141I) more efficiently induced cell death compared to wild-type PS-2 despite lower mutant protein accumulation.
|
9334350 |
1997 |
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene.
|
19073399 |
2008 |
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene.
|
19073399 |
2008 |
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia.
|
16331303 |
2006 |
Familial Alzheimer Disease (FAD)
|
|
0.020 |
GeneticVariation
|
BEFREE |
The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia.
|
16331303 |
2006 |
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia.
|
16331303 |
2006 |
Familial Alzheimer Disease (FAD)
|
|
0.020 |
GeneticVariation
|
BEFREE |
The present study investigated the influence of two familial Alzheimer's-disease-linked presenilin2 variants (N141I and M239V) and a loss-of-function presenilin2 mutant (D263A) on the activity of the transient receptor potential canonical (TRPC)6 Ca(2+) entry channel.
|
15601622 |
2005 |
Alzheimer Disease, Late Onset
|
|
0.010 |
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 |
Senile Plaques
|
|
0.010 |
GeneticVariation
|
BEFREE |
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies.
|
11126202 |
2000 |