PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE Administration of PPARA agonists decreases amyloid pathology and reverses memory deficits and anxiety symptoms in APP-PSEN1ΔE9 mice. 30898012 2020
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE In this report, we found that a PSEN1 mutation (S169del) altered APP processing and Aβ generation, and promoted neuritic plaque formation as well as learning and memory deficits in AD model mice. 29915376 2020
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE Using 5×FAD transgenic mice, which develop robust AD pathology and memory deficits when very young, we detected interactions between clusterin and Aß in the mouse brains. 30295351 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE Thus, we conclude that the memory deficits and anxiety-related behaviors in patients with PS1 mutations is a reflection not just of an increase in the levels of Aβ42 peptides, but to impairments in the self-renewal and neuronal differentiation of AHNPCs that modulate affective behaviors. 31217332 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE The presenilin 1 and 2 conditional double knockout (PS cDKO) mice exhibit AD-like phenotypes including obvious neuroinflammatory responses and synaptic dysfunction and memory deficits. 31376499 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE In 6-month-old 5 × FAD mice exhibiting hippocampus inflammation and memory impairment, oral administration of iso-α-acids for 7 days reduced inflammatory cytokines, including MIP-1α and soluble Aβ and improved object memory in the novel object recognition test. 30804789 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE Additionally, the APP+PS1 rats made significantly more errors following a retention interval, indicating impaired memory compared to both the APP21 and WT rats. 29641600 2018
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE The forebrain presenilin-1 and presenilin-2 conditional double knockout (cDKO) mice showed memory impairment, forebrain degeneration, tau hyperphosphorylation and inflammation that closely mimics AD-like phenotypes. 29867447 2018
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE Using the amyloid precursor protein (APP)/presenilin 1 (PS1) transgenic mouse model, we found that inhibition of RIPK1, using both pharmacological and genetic means, reduced amyloid burden, the levels of inflammatory cytokines, and memory deficits. 28904096 2017
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE By revealing sex-dependent hippocampal alterations, our data may provide causal explanation to APPxPS1 females' memory deficits. 28666707 2017
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE Our results showed that curcumin administration (150 or 300 mg/kg/day, intragastrically, for 60 days) dramatically reduced Aβ production by downregulating BACE1 expression, preventing synaptic degradation, and improving spatial learning and memory impairment of 5×FAD mice. 26910813 2017
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype CTD_human Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease. 28448946 2017
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE Using a Morris water maze test, we found that 9- and 12-month-old APP/PS1 mice showed memory deficit, compared to wild type mice. 27911305 2017
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE In the present study, we evaluated the therapeutic effect of WJ-MSC transplantation on the neuropathology and memory deficits in amyloid precursor protein (APP) and presenilin-1 (PS1) double-transgenic mice and discussed the mechanism. 26188488 2016
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE Behavioral assessment using Barnes maze showed that APP + PS1 rats exhibited a larger learning and memory deficit than APP21 rats. 27388605 2016
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE We aimed to investigate the effect of an optimized combination of ginger and peony root (OCGP), a standardized herbal mixture of ginger and peony root, on Aβ accumulation and memory impairment in amyloid-β protein precursor (AβPP)/presenilin 1 (PS1) double-transgenic mice. 26639976 2016
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype CTD_human Notoginsenoside R1 increases neuronal excitability and ameliorates synaptic and memory dysfunction following amyloid elevation. 25213453 2014
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE Neuropsychological data were consistent with these regional differences and suggested greater memory deficits in the APP patients and greater impairment in non-memory domains in the PSEN1 group, although these differences were not statistically significant. 23380992 2013
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE Remarkably, XD4 also attenuated memory deficits in β-amyloid precursor protein/presenilin 1 (APPswe/PS1dE9) transgenic mice, and reduced amyloid plaque burden and Aβ40/42 levels. 22426388 2012
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE These results suggest that the sensorimotor gating is impaired with the progressing of AD phenotype, and its deficit may be correlated to cerebral Aβ neuropathology and memory impairment in the APP/PS1 transgenic mouse model of AD. 22595040 2012
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE Our data demonstrated that human Val97Leu mutant presenilin-1 causes spatial memory deficit in mice and increases tau phosphorylation level in glycogen synthase kinase-3-dependent manner. 21929538 2012
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE L-NBP treatment significantly improved the spatial learning and memory deficits compared to the vehicle-treated AβPP/PS1 mice, whereas L-NBP treatment had no effect on cerebral Aβ plaque deposition and Aβ levels in brain homogenates. 22233765 2012
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 GeneticVariation phenotype BEFREE This paper reports the case of a 38-year-old female showing early memory impairment and having a base pair mutation from guanine (G) to cytosine (C) at codon 139 of PSEN1, which leads to the substitution of a methionine with an isoleucine. 20213228 2010
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE When tested in the Morris water maze for spatial orientation abilities, whereas APP/PS1 mice develop age-related learning and memory deficits, APP/PS1/AI mice continue to perform normally during aging. 20847045 2010
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.500 Biomarker phenotype BEFREE Here, we showed that systemic treatment of APP and presenilin 1 (PS1) transgenic mice, a robust Alzheimer's disease (AD) mouse model, with indirubin-3'-monoxime (IMX; 20mg/kg; 3 times weekly), for as little as 2months, significantly attenuated spatial memory deficits. 20381617 2010