rs63750526, PSEN1

N. diseases: 10
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
0.070 GeneticVariation BEFREE Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP. 24418614 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.070 GeneticVariation BEFREE Neurons from mutant hiPSC lines express PSEN1-A246E mutations themselves and show AD-like biochemical features, that is, amyloidogenic processing of amyloid precursor protein (APP) indicated by an increase in β-amyloid (Aβ)42/Aβ40 ratio. 25027006 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.070 GeneticVariation BEFREE Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer's disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein. 21538175 2011
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.070 GeneticVariation BEFREE PS1/A246E mice mimic to some extent pre-symptomatic Alzheimer's disease neuropathology, useful for studying early neurochemical changes often inaccessible in clinical studies. 19056437 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.070 GeneticVariation BEFREE We also introduced the human Abeta(42) monomer gene vaccine into AD double transgenic mice APPswe/PSEN1(A246E). 15596606 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.070 GeneticVariation BEFREE Transgenic mice carrying both the human amyloid precursor protein (APP) with the Swedish mutation and the presenilin-1 A246E mutation (APP/PS1 mice) develop Alzheimer's disease-like amyloidbeta protein (Abeta) deposits around 9 months of age. 14678749 2003
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.070 GeneticVariation BEFREE To test whether oxidative stress is an inherent property of AD tissues, the ability of cultured fibroblasts bearing the AD Presenilin-1 246 Ala-->Glu mutation to handle reactive oxygen species (ROS) was compared to controls. 11068175 2000