| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | The present work acknowledged the novel PSEN1 pathogenic mutation M84V and might contribute to the ongoing debate about the involvement of cerebellum in AD. | 28532646 | 2017 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | The a posteriori diagnosis of AD is supported by the evidence of the causative genetic mutation PSEN1-Met146Leu as well as neuropathological AD features in her genealogically proven descendants. | 27730373 | 2016 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | In this study, we investigated the effects of long-term (9-month) treatment with pioglitazone (PIO; 20 mg/kg/d) in two animal models of Alzheimer's disease (AD)-related neural dysfunction and pathology: the PS1-KI(M146V) (human presenilin-1 (M146V) knock-in mouse) and 3xTg-AD (triple transgenic mouse carrying AD-linked mutations) mice. | 23254291 | 2012 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | In contrast, all PSEN1 mutations that have been used to accelerate pathological changes in AD models strongly attenuated the Aβ42-lowering activity of GSMs with two exceptions (M146L, A246E). | 21091478 | 2011 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | The impact of celastrol on brain Abeta accumulation was tested in a transgenic mouse model of AD overexpressing the human APP695sw mutation and the presenilin-1 mutation M146L (Tg PS1/APPsw) by immunostaining and ELISAs. | 20211007 | 2010 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | To test the hypothesis that calcium-related mechanisms, such as changes in calcium buffering, are associated with alterations in LTP and memory, we utilized in vitro experimental paradigms of LTP in hippocampal slices obtained from the PS1-M146V transgenic mouse model of Alzheimer's disease (AD). | 20399254 | 2010 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | In addition, CRMP2 phosphorylation at the Cdk5 and GSK3 sites is increased in cortex and hippocampus of the triple transgenic mouse [presenilin-1 (PS1)(M146V)KI; Thy1.2-amyloid precursor protein (APP)(swe); Thy1.2tau(P301L)] that develops AD-like plaques and tangles, as well as the double (PS1(M146V)KI; Thy1.2-APP(swe)) transgenic mouse. | 17683481 | 2007 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism. | 15622541 | 2005 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | We examined the brains of 12-month-old singly and doubly transgenic mice overexpressing mutant amyloid precursor protein (APP(swe)) and/or presenilin-1 (PS1(M146L)) to investigate the effects of these AD-related genes on plaque and tangle pathology, astrocytic expression, and the CBF projection system. | 11476589 | 2001 | |||||
Alzheimer's Disease
|
0.100 | GeneticVariation | BEFREE | To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines. | 11311782 | 2001 |