Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
MAPT
0.080 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
dbSNP: rs63751273
rs63751273
MAPT
0.080 GeneticVariation BEFREE In this study, we found that aged Tg mice of both sexes expressing human tau proteins harboring a pathogenic P301L <i>MAPT</i> mutation labeled with green fluorescent protein (T40PL-GFP Tg mouse line) exhibited hyperphosphorylated tau mislocalized to the somatodentritic domain of neurons, but these mice did not develop <i>de novo</i> insoluble tau aggregates, which are characteristic of human AD and related tauopathies. 28986461

2017
dbSNP: rs63751273
rs63751273
MAPT
0.080 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
dbSNP: rs63751273
rs63751273
MAPT
0.080 GeneticVariation BEFREE Here, we found that the BDNF level was reduced in the serum and brain of AD patients and P301L transgenic mice (a mouse model of tauopathy). 27701410

2016
dbSNP: rs63751273
rs63751273
MAPT
0.080 GeneticVariation BEFREE The P301L mutation is causal for frontotemporal dementia with parkinsonism-17 (FTDP-17), but it has been used for studying memory effects characteristic of AD in transgenic mice. 22561128

2012
dbSNP: rs63751273
rs63751273
MAPT
0.080 GeneticVariation BEFREE We have found that in 6-24-months-old triple transgenic Alzheimer's disease model mice (3xTg-AD) producing both Aβ(1-42) and the mutant human tau protein tau(P301L,) the dentate granule cells still had immunostainable SSTR3- and p75(NTR)-bearing cilia but they were only half the length of the immunostained cilia in the corresponding wild-type mice. 22995307

2012
dbSNP: rs63751273
rs63751273
MAPT
0.080 GeneticVariation BEFREE Genetic tau mutations can cause FTDP-17, and mice overexpressing tau mutants such as P301L tau are used as AD models. 18431510

2008
dbSNP: rs63751273
rs63751273
MAPT
0.080 GeneticVariation BEFREE Twenty-six patients with FTD (9 with tau mutations 7 P301L and 2 G272V), 18 patients with Alzheimer disease (AD), and 13 nondemented controls. 12975285

2003