|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, the PSEN-1 E318G variant has an unclear pathogenic role and is recently reported as a genetic risk factor for AD.
|
30381075 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PS1 have been shown to cause early-onset inherited forms of Alzheimer's disease (AD) by a gain-of-function mechanism that alters proteolytic processing of the amyloid precursor protein (APP) resulting in increased production of neurotoxic forms of amyloid beta-peptide.
|
11494322 |
2001 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The rare familial mutations in APP and presenilin-1/2, which sometimes drive increased amyloid β (Aβ) production, may have unduly influenced Alzheimer's disease research.
|
30471088 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This suggests that the frequency of mutations in the PS-1 (S182) coding region in "sporadic" Alzheimer's disease in very low.
|
8627338 |
1996 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Processing of presenilin 1 in brains of patients with Alzheimer's disease and controls.
|
9189920 |
1997 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In order to study the anti-inflammatory properties of ibuprofen independent of its anti-amyloidogenic activity, we performed a long-term treatment study with ibuprofen in 5XFAD mice expressing a presenilin-1 mutation that renders this AD model resistant to γ-secretase modulation.
|
21943956 |
2012 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we discovered that, in amyloid precursor protein (APP)/presenilin-1 (PS1) mice (age 3-4 mo), a prominent mouse model of Alzheimer's disease (AD), late long-term potentiation (LTP; L-LTP) and its associative plasticity mechanisms such as synaptic tagging and capture (STC) were impaired already in presymptomatic mice.
|
28484012 |
2017 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Alzheimer's Prevention Initiative Colombia Trial is a collaborative project involving the Neurosciences Group of Antioquia, Genentech/Roche, and the Banner Alzheimer's Institute, studying whether crenezumab can delay or prevent the clinical onset of Alzheimer's disease in cognitively unimpaired individuals who carry the <i>PSEN1 E280A</i> mutation.
|
30090848 |
2018 |
|
Alzheimer's Disease
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Presenilin-1 protein expression in familial and sporadic Alzheimer's disease.
|
9189035 |
1997 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression.
|
20158511 |
2010 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
More than 100 missense mutations in presenilin 1 and 2 are associated with early-onset dominant Alzheimer disease.
|
17268504 |
2007 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we studied the accumulation of Aβ, toxic turn Aβ and high-molecular-weight Aβ oligomers in presenilin 1 (PS1) gene-transfected SH-SY5Y cells as well as in the brains of 3xTg-AD mice and AD patients.
|
22950910 |
2013 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here, we examined the miR-206-3p and miR-206-5p expression in the hippocampus and cortex of Abeta precursor protein (APP)/presenilin-1 (PS1) transgenic mice treated with donepezil, a drug approved for treating AD in clinic.
|
28123152 |
2017 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Over 240 different fully penetrant autosomal dominant mutations in 532 families around the world have been described in three genes [i.e., amyloid precursor protein (APP), and presenilins (PSEN1 and PSEN2)] causing 50% of all Familial AD.
|
26549787 |
2016 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.
|
12817569 |
2003 |
|
Alzheimer's Disease
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
There were no significant differences between PS-1 mRNA levels per pg total RNA in mid-temporal or superior frontal cortices of the Alzheimer's disease subjects, compared to controls.
|
8830658 |
1996 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
We crossed an Alzheimer's model mutant APP <sup>KM670/671NL</sup> /PSEN1 <sup>Δexon9</sup> (APP/PSEN1) mouse model with Tyrobp <sup>-/-</sup> mice to generate AD model mice deficient or null for TYROBP (APP/PSEN1; Tyrobp <sup>+/-</sup> or APP/PSEN1; Tyrobp <sup>-/-</sup>).
|
28612290 |
2017 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Overall, the brain histopathology and behavioral assessment showed that the APP+PS1 rats demonstrated behavioral characteristics and vascular changes similar to those commonly observed in patients with Alzheimer's disease.
|
29641600 |
2018 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.
|
15272895 |
2004 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.
|
11701593 |
2001 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although PSEN1 mutations are "deterministic" for Alzheimer's disease, they are associated with marked heterogeneity in the clinical expression of neurological features.
|
19221408 |
2009 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, blockade of gap junction hemichannel also significantly improved memory impairments without altering amyloid β deposition in double transgenic mice expressing human amyloid precursor protein with K595N and M596L mutations and presenilin 1 with A264E mutation as an Alzheimer's disease mouse model.
|
21712989 |
2011 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Alzheimer's disease brain showed strong immunoreactivity of presenilin 1 in reactive astrocytes and senile plaques.
|
10340748 |
1999 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An 1H-MRS framework predicts the onset of Alzheimer's disease symptoms in PSEN1 mutation carriers.
|
24239247 |
2014 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report a presenilin-1 mutation (T245P) in a Japanese-American family with autosomal dominant Alzheimer's disease with an onset age in the early 40s.
|
16469444 |
2006 |