rs1386984902, APP

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE The present study aimed to evaluate the impact of the new TSPO ligands on mitochondrial dysfunction in a cellular model of AD-related tauopathy (human neuroblastoma cells SH-SY5Y stably overexpressing the P301L-mutant Tau) presenting mitochondrial impairments, including a decreased ATP synthesis and mitochondrial membrane potential, as well as a decrease in pregnenolone synthesis compared to control cells. 31536662 2020
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE Interestingly, reduced nuclear mSREBP-2 was only found in animal models of tauopathies such as 3XTg AD mice and P301L Tau Tg mice but not in CRND8 APP transgenic mice, suggesting that tau alterations likely are involved in the changes of mSREBP-2 distribution and activation in AD. 30515907 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE In the present study, we aimed to characterize the link between ER stress and bioenergetics defects under normal condition (human SH-SY5Y neuroblastoma cells: control cells) or under pathological AD condition [SH-SY5Y cells overexpressing either the human amyloid precursor protein (APP) or mutant tau (P301L)]. 30683981 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE The present study evaluates the impact of neurosteroids belonging to the sex hormone family (progesterone, estradiol, estrone, testosterone, 3α-androstanediol) on mitochondrial dysfunction in cellular models of AD: human neuroblastoma cells (SH-SY5Y) stably transfected with constructs encoding (1) the human amyloid precursor protein (APP) resulting in overexpression of APP and Aβ, (2) wild-type tau (wtTau), and (3) mutant tau (P301L), that induces abnormal tau hyperphosphorylation. 26198711 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE To investigate the effect of early immune modulation on neuroinflammation and cognitive outcome, we treated triple transgenic Alzheimer's disease mice (harboring PS1(M146V), APP(Swe), and tau(P301L) transgenes) with the small molecule tumor necrosis factor-α inhibitors, 3,6'-dithiothalidomide and thalidomide, beginning at four months of age. 22632257 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE A triple transgenic mouse model of AD (3xTg-AD) which harbors mutations in three human transgenes, APP(Swe), PS1(M146V) and Tau(P301L), was used in these experiments. 21237293 2011
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE We previously demonstrated that 3xTg-AD mice, which harbor the human amyloid precursor protein Swedish mutant transgene, presenilin knock-in mutation, and tau P301L mutant transgene, exhibit significant alterations in overall myelination patterns and oligodendrocyte status at time points preceding the appearance of amyloid and tau pathology. 20696774 2010
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE Herein, we demonstrate that triple-transgenic AD (3xTg-AD) mice, which harbor the human amyloid precursor protein Swedish mutant transgene, presenilin knock-in mutation, and tau P301L mutant transgene, exhibit significant region-specific alterations in myelination patterns and in oligodendrocyte marker expression profiles at time points preceding the appearance of amyloid and tau pathology. 18661556 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE We validated this procedure using aged (15-18m) mice expressing three Alzheimer's disease-related transgenes, PS1(M146 V), APP(Swe), and tau(P301L). 18831990 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE Beta-amyloid treatment of two complementary P301L tau-expressing Alzheimer's disease models reveals similar deregulated cellular processes. 17111439 2006
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE Ageing APP-V717IxTau-P301L double tg mice (14-17 months) have combined AD-like pathology in hippocampus and cortex consisting of amyloid plaques and neurofibrillary tangles. 17028556 2006
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE To study the interaction between Abeta and tau and their effect on synaptic function, we derived a triple-transgenic model (3xTg-AD) harboring PS1(M146V), APP(Swe), and tau(P301L) transgenes. 12895417 2003