|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
To examine the role of sEH in pathogenesis of AD, we used wild-type (WT) mice, soluble epoxide hydrolase deficient (sEH<sup>-/-</sup>) and two mouse models of AD, including amyloid precursor protein (APP)/presenilin 1 (PS1) transgenic (APP/PS1 Tg) and APP/PS1 Tg/sEH<sup>-/-</sup> mice.
|
31847859 |
2019 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found that the carboxyterminal fragment of presenilin 1 was redistributed from DRM regions to detergent-soluble membrane (non-DRM) regions in brain tissue samples from individuals with sporadic AD.
|
31841137 |
2020 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Recent advances in research throw more lights of its beneficial role towards Alzheimer's disease (AD), including promoting β-amyloid (Aβ) clearance, as well as inhibiting Aβ production in the triple-transgenic mouse model of Alzheimer's disease (3×Tg AD).
|
31810131 |
2020 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent advances in research throw more lights of its beneficial role towards Alzheimer's disease (AD), including promoting β-amyloid (Aβ) clearance, as well as inhibiting Aβ production in the triple-transgenic mouse model of Alzheimer's disease (3×Tg AD).
|
31810131 |
2020 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate the basis for the hyperactivity, we performed electrophysiological and immunofluorescence studies on hiPSC-derived cerebrocortical neuronal cultures and cerebral organoids bearing AD-related mutations in presenilin-1 or amyloid precursor protein vs. isogenic gene corrected controls.
|
31782729 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A polymorphism of the PS1 gene is associated with sporadic Alzheimer's disease risk in a northern Chinese population.
|
31764245 |
2020 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that altered C99 interactions are a common feature of diverse types of PS1 FAD mutants and that also patients with Aβ43-generating FAD mutations could in principle be treated by GSMs.
|
31762188 |
2020 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
To address the impact of alcohol drinking on AD, studies were conducted using 3xTg-AD mice that express human MAPT, APP, and PSEN-1 transgenes and develop AD-like brain and behavioral pathology.
|
31733664 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Binding of FAD significantly decreases protein dynamics and stabilizes the FAD and dicoumarol binding sites as well as the monomer:monomer interface.
|
31726777 |
2019 |
|
Hypertensive disease
|
0.020 |
Biomarker
|
group |
BEFREE |
Hypertension was preserved in the SHRSP/FAD cross.
|
31708792 |
2019 |
|
Hyperactive behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Further, there were mitochondrial deficits specific to SHRSP/FAD, notably the loss of complex II, accompanying FAD-dependent loss of mitochondrial complex I. Cognitive deficits exhibited by FAD rats were not exacerbated by the introduction of the SHRSP phenotype, nor was the hyperactivity phenotype associated with SHRSP altered by the FAD transgene.
|
31708792 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Single-point mutations in the genes coding for amyloid precursor protein (APP) and presenilin 1 (PS1), the active subunit of γ-secretase that cleaves APP to produce Aβ, are the main causes of rare but severe familial Alzheimer's disease (fAD).
|
31697913 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.
|
31686034 |
2019 |
|
Mild cognitive disorder
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.
|
31686034 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's Disease Progression in the 5×FAD Mouse Captured with a Multiplex Gene Expression Array.
|
31683485 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While healthy astrocytes increase glutathione (GSH) release to protect the cells, Presenilin-1-mutated AD patient astrocytes do not.
|
31670864 |
2020 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We clinically characterized and whole-exome genotyped 71 individuals with AD from the Paisa genetic isolate, segregating the (PSEN1) E280A dominant fully penetrant mutation, and analyzed the potential recessive effects of ~ 50,000 common functional genomic variants to the ADAOO.
|
31664702 |
2020 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Therefore, the purpose of this study was to investigate the effect of progesterone on the glucose metabolism of neurons in amyloid precursor protein (APP)/presenilin 1 (PS1) mice and Aβ-induced AD cell model.
|
31647947 |
2019 |
|
Alzheimer's Disease
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Finally, we showed that calcilytic NPS 2143 induced a changing of Aβ and sAβPPα secreted into conditioned media and modulation of CaSR and PSEN1 expression at the plasma membrane of AD neurons.
|
31640098 |
2019 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
We demonstrate that deletion of a single conserved amino acid, which is very rare compared to missense mutations as the common cause for PSEN1-associated Alzheimer's disease, can lead to an unusual profile of Aβ species.
|
31627977 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation.
|
31627126 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report the generation and characterization of an iPSC line derived from a FAD patient carrying the PSEN1-G206D mutation.
|
31627126 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
By studying the loss-of-function properties of PS1 mutants, it is possible to successfully screen FAD suppressor mutations and identify γ-secretase modulators (GSMs), which are promising Alzheimer disease therapeutic agents.
|
31602624 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To test this, we isolated EVs from iPSC-derived neuronal cultures generated from an fAD patient harboring a A246E mutation to presenilin-1 and stereotactically injected these EVs into the hippocampi of wild-type C57BL/6 mice.
|
31594233 |
2019 |
|
Alzheimer's Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Previously, we found that total nitrosylated protein levels were increased in the brain of amyloid-β protein precursor (AβPP) and presenilin 1 (PS1) double transgenic mice, an animal model for AD, suggesting that cysteine oxidative protein modification may contribute to this disease.
|
31561358 |
2019 |