Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE While healthy astrocytes increase glutathione (GSH) release to protect the cells, Presenilin-1-mutated AD patient astrocytes do not. 31670864

2020

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling. 29915376

2020

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Our results suggest that this novel PSEN1 Gly111Val mutation may play a pathogenic role in AD. 31235344

2020

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE A polymorphism of the PS1 gene is associated with sporadic Alzheimer's disease risk in a northern Chinese population. 31764245

2020

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Frontal Variant of Alzheimer's Disease: A Report of a Novel PSEN1 Mutation. 31177233

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker BEFREE Overall, our findings suggest that treadmill exercise may suppresse the overactivation of the UPR signaling as well as inhibit the amyloidogenic pathway in APP/PS1 mice, thus may serve as an useful approach for the prevention and treatment of AD. 30905823

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker BEFREE The TgF344-AD rat model of AD, bearing mutant human amyloid precursor protein (APPswe) and Presenilin 1 (PSEN1ΔE9) genes, has been described to manifest the full spectrum of AD pathology similar to human AD, i.e. progressive cerebral amyloidosis, tauopathy, neuronal loss and age-dependent cognitive decline. 30445024

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Although a link between the loss of the Y (LOY) chromosome in peripheral blood cells and risk for AD has been reported, LOY-associated phenotype has not been previously studied in PSEN1 E280 A carriers. 30904577

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE PSEN1-P242LfsX11 occurs at the opposite side of TM5 from Alzheimer's disease-linked PSEN1 mutations. 30544224

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker BEFREE In this study, AD cerebral organoids were generated by overexpressing familial AD mutations (APP and PS1 genes) in mouse induced pluripotent stem cells, so that the early pathogenesis of AD could be investigated well with protein and cellular phenotype analyses. 31421155

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. 30769329

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Alzheimer's Disease Progression in the 5×FAD Mouse Captured with a Multiplex Gene Expression Array. 31683485

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE We found that point mutations in AD main genes (PSEN1, PSEN2, and APP) were underrepresented in our cohort of patients. 30636737

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation 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

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Alzheimer's Disease Presenilin-1 Mutation Sensitizes Neurons to Impaired Autophagy Flux and Propofol Neurotoxicity: Role of Calcium Dysregulation. 30636740

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE PSEN1 mutations are the most important causes of familial AD, being related to the earlier onset and rapid progression of the disease. 31204041

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE We reviewed studies of diffusion tensor imaging (DTI), amyloid deposition and cerebral metabolism in patients with AD and control, in order to address the relative change of white matter microstructural associated with PSEN1 genotype. 30599314

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker BEFREE We generated an embryonic deletion of Trem2 (whole body deletion) and induced hippocampal- and cortical-specific knockdown of microglial Trem2 at different stages of the AD process in amyloid precursor protein/Psen1 mice by adeno-associated virus (AAV) infection. 31219699

2019

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation BEFREE Exenatide alleviates mitochondrial dysfunction and cognitive impairment in the 5×FAD mouse model of Alzheimer's disease. 31082410

2019