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: C0002726
Disease: Amyloidosis
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 production in the triple-transgenic mouse model of Alzheimer's disease (3×Tg AD). 31810131 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Familial Alzheimer's disease (FAD)-associated presenilin 1 (PS1) serves as a catalytic subunit of γ-secretase complex, which mediates the proteolytic liberation of β-amyloid () from β-amyloid precursor protein (APP). 30682043 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease 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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 AlteredExpression disease BEFREE This age-dependent shift in peptide profile coincided with reduced expression of glycosylated species of ADAM-10 (α-secretase) and BACE1 (β-secretase), and an increased co-immunoprecipitation of presenilin-1 with nicastrin (components of the γ-secretase complex). 30803762 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE We demonstrated that an antibiotic cocktail (ABX)-perturbed gut microbiome is associated with reduced amyloid-β (Aβ) plaque pathology and astrogliosis in the male amyloid precursor protein (<i>APP)<sub>SWE</sub></i> /presenilin 1 <i>(PS1)<sub>ΔE9</sub></i> transgenic model of Aβ amyloidosis. 31097468 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Here, we show that absence of TYROBP/DAP12 in a mouse model of AD-type cerebral Aβ amyloidosis (APP<sup>KM670/671NL</sup>/PSEN1<sup>Δexon9</sup>) recapitulates the expected network characteristics by normalizing the transcriptome of APP/PSEN1 mice and repressing the induction of genes involved in the switch from homeostatic microglia to disease-associated microglia (DAM), including Trem2, complement (C1qa, C1qb, C1qc, and Itgax), Clec7a and Cst7. 30283032 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE In particular, gene mutations of the γ-secretase complex-which contains presenilin 1 or 2 as the catalytic core-could trigger marked accumulation. 29097202 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Moreover, in mice carrying an Alzheimer's disease-related mutation in presenilin 1, astrocytes accumulated GABA even in the absence of amyloidosis. 29107186 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 AlteredExpression disease BEFREE Recently, we reported that presenilin 1 considerably increased the expression level of U1 small nuclear RNA (snRNA) accompanied with the adverse change of amyloid precursor protein (APP) expression, β-amyloid () production and cell apoptosis. 29395359 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 AlteredExpression disease BEFREE AD-like phenotypes were altered by co-expression of PS1, including a shift from hippocampal to cortical pathology, alongside reduced deficits in spatial learning. 30040726 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE The protective action of the N-terminal fragment and Aβcore against spatial memory processing deficits in amyloid precursor protein/PSEN1 (5XFAD) mice was demonstrated in contextual fear conditioning. 29164616 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Alzheimer's disease mouse models that overexpress amyloid precursor protein (APP) and presenilin 1 (PS1) form β-amyloid () plaques, a hallmark Alzheimer's disease lesion. 30315100 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Mutations in the human genes PRESENILIN1 (PSEN1), PRESENILIN2 (PSEN2) and AMYLOID BETA A4 PRECURSOR PROTEIN (APP) have been identified in familial Alzheimer's disease (AD). 28636676 2017
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Moreover, EW induced expression of stress-activated protein kinase p38 and presenilin 1 (PS1), the catalytic subunit of γ-secretase that produces the neurotoxic amyloid-β (Aβ) peptides Aβ40 and Aβ42. 28490448 2017
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Phosphorylated Presenilin 1 decreases β-amyloid by facilitating autophagosome-lysosome fusion. 28533369 2017
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE This study investigates the neuroprotective properties of berberine (a natural isoquinoline alkaloid isolated from the Rhizoma coptidis) and finds that berberine could promote β-amyloid () clearance and inhibit production in the triple-transgenic mouse model of Alzheimer's disease (3×Tg-AD). 28223223 2017
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Crossing APP/PS1 mice with TRPC6 transgenic mice leads to a marked reduction in both plaque load and levels, and improvement in structural and behavioural impairment. 26581893 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Spontaneous ARIA (amyloid-related imaging abnormalities) and cerebral amyloid angiopathy related inflammation in presenilin 1-associated familial Alzheimer's disease. 25408217 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE In the present study, treadmill exercise was initiated at a developed deposition stage in order to further investigate whether or not treadmill exercise in this phase can delay the progression of AD in aged APP/PS1 mice (17 months of age). 25917310 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Relative ratio and level of amyloid-β 42 surrogate in cerebrospinal fluid of familial Alzheimer disease patients with presenilin 1 mutations. 24192669 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE In contrast, sleep deprivation or increasing wakefulness by rescue of orexinergic neurons in APP/PS1 mice lacking orexin increased the amount of pathology in the brain. 25422493 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease CTD_human In the present study, we evaluated the effects of a 3-month treatment course of trientine (Trien) on amyloidosis in 7-month-old β-amyloid (Aβ) precursor protein and presenilin-1 (APP/PS1) double transgenic (Tg) AD model mice. 23541064 2013
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE We orally administered the flavonoid tannic acid (TA) to the transgenic PSAPP mouse model of cerebral amyloidosis (bearing mutant human APP and presenilin-1 transgenes) and evaluated cognitive function and AD-like pathology. 22219198 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 AlteredExpression disease BEFREE These findings show that precursor protein as well the activity of the γ-secretase are required to obtain the up-regulation of β-secretase which is induced by Presenilin 1 mutations. 22708832 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE The Aβ42-induced PS1 increase was abolished by siRNA AChE pretreatment, suggesting that AChE may participate in the pathological feedback loop between PS1 and . 21621296 2012