Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression BEFREE The observation that PS-1 and PS-2 are highly expressed in neurons, localized to the endoplasmic reticulum, suggests that the presenilins could regulate neuronal K+ channel expression; mutations in PS-1/PS-2 would then be expected to result in profound changes in neuronal excitability and contribute to the cognitive decline commonly associated with Alzheimer's Disease. 9666479

1998

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE These data suggest that PS1 mutation could lead to cognitive deficits through subtoxic physiological effects. 10467268

1999

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Cognitive decline in patients with familial Alzheimer's disease associated with E280a presenilin-1 mutation: a longitudinal study. 10923058

2000

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients. 18403054

2009

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Neuropsychologic evaluation revealed global cognitive deficits; he was found to be a carrier of a PS-1 point mutation at position G206A. 18797263

2008

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression BEFREE We have recently shown that Alzheimer's disease (AD) transgenic mice given a moderate level of caffeine intake (the human equivalent of 5 cups of coffee per day) are protected from development of otherwise certain cognitive impairment and have decreased hippocampal amyloid-beta (Abeta) levels due to suppression of both beta-secretase (BACE1) and presenilin 1 (PS1)/gamma-secretase expression. 19581722

2009

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Clinical deterioration can be detected as measurable cognitive impairment around two decades before dementia onset in PSEN1 E280A carriers. 21296022

2011

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Indeed, the most popular genetic AD mouse lines bearing mutations of the amyloid precursor protein (APP) and presenilin 1 genes (PS1), often fail to present robust cognitive deficits or show them only at very advanced ages. 22014620

2012

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms. 23850332

2014

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline. 23948899

2013

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE In this study, we investigated the effect of T4 on cognitive decline and synaptic plasticity in five times familial AD (5XFAD) mice co-expressing mutated amyloid precursor protein and presenilin-1. 25661995

2015

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE Chronic LTG treatment rescues the suppressed long-term potentiation, loss of spines and cognitive deficits in AβPP/PS1 mice, known to overexpress a chimeric mouse/human mutant amyloid-β protein precursor (AβPP) and a mutant human presenilin 1 (PS1). 25854934

2015

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE In contrast, deltaE9 mice with mutant APP and mutant presenilin-1 develop amyloid plaques early but show typical cognitive deficits in old age. 25862638

2015

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Reversal of high fat diet-induced obesity improves glucose tolerance, inflammatory response, β-amyloid accumulation and cognitive decline in the APP/PSEN1 mouse model of Alzheimer's disease. 28108292

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE We thus evaluated seizure susceptibility and hippocampal network hyperexcitability at ~3 weeks of age [prior to amyloid beta (Aβ) plaque deposition, neurofibrillary pathology, and cognitive impairment] in a triple transgenic mouse model of familial AD (3xTg-AD mouse) that harbors mutated human Aβ precursor protein (APP), tau and presenilin 1 (PS1) genes. 28392767

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE Our data demonstrates that psen1 splicing interference induces phenotypes that resemble early-stage AD, including cognitive deficit, Aβ<sub>1-42</sub> accumulation and synaptic reduction, reinforcing the potential contribution of zebrafish larvae to studies of human brain diseases. 28623607

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294

2017

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE Our results indicated that TFDM treatment ameliorated cognitive impairments and neurodegeneration and improved the antioxidant defense system in APP/PS1 mice. 29100755

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression BEFREE Here, we confirmed that the increase of miR-34a expression in APP/PS1 mice was earlier than the relevant AD pathological characteristics, such as amyloid-β production, amyloid plaque deposition, and cognitive deficits. 29378298

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE The therapeutic effects of Simvastatin were evaluated in 24-month-old triple-transgenic Alzheimer's disease (3×Tg-AD) mice, and the efficacy of Simvastatin in attenuating memory and cognitive impairment was investigated. 29434767

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE Here, we determined whether dietary D-PUFA would ameliorate Aβ pathology and/or cognitive deficits in a mouse model of AD (amyloid precursor protein/presenilin 1 double mutant transgenic mice). 29579687

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Importantly, inhibition of PKCδ by rottlerin markedly reduces BACE1 expression, Aβ levels, and neuritic plaque formation and rescues cognitive deficits in an APP Swedish mutations K594N/M595L/presenilin-1 with an exon 9 deletion-transgenic AD mouse model. 29739836

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression BEFREE The senile plaques (SPs) in the brain are one of the most pathophysiological characteristics of cognitive dysfunction and its major constituent amyloid β (Aβ) released from amyloid precursor protein (APP) by β (BACE1) and γ (presenilin 1) secretases . 29775888

2018

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker BEFREE Then we assessed the cognitive function of 12-month-old APP (amyloid precursor protein)/PS1 (presenilin 1)/Gfap-Cx43 KO mice, which demonstrated that the deletion of astroglial Cx43 significantly ameliorated cognitive dysfunction. 30031059

2018