|
rs1205185774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs1005752506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The JNPL3 mice express human tau proteins bearing a P301L mutation, which mimics the neurodegenerative process observed in humans with tauopathy.
|
22975846 |
2012 |
|
rs1386984902
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The TauP301L mouse expresses P301L tau under the control of a prion promoter in both neurons and astrocytes, reminiscent of some human tauopathies.
|
28869476 |
2017 |
|
rs1386984902
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Remarkably, while Tau-P301L mice die before age 1 year, the APP-V717IxTau-P301L double tg mice survive much longer, which correlates with alleviation of tauopathy in hindbrain, despite aggravation in forebrain.
|
17028556 |
2006 |
|
rs1386984902
|
|
|
0.040 |
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 |
|
rs1386984902
|
|
|
0.040 |
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 |
|
rs201792381
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, we observed no ER stress in a mouse model of tauopathy (P301S-Tau-Tg mice) at various ages, suggesting that ER stress is also not essential in tau pathology-induced neurodegeneration.
|
29298895 |
2018 |
|
rs201792381
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In this study, we examined whether BFT confers neuroprotection against tau phosphorylation and the generation of neurofibrillary tangles (NFTs) in the P301S mouse model of tauopathy.
|
29860433 |
2018 |
|
rs760073870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein.
|
12127682 |
2002 |
|
rs1235134025
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
rs752410089
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
rs776045205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
rs780325052
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
rs763872192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuroprotective effects of low fat-protein diet in the P301L mouse model of tauopathy.
|
28456717 |
2017 |
|
rs1411928276
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a family with autosomal dominant frontotemporal lobar degeneration caused by a novel GRN nonsense mutation (c.5G>A: p.Trp2*) in which the proband's brain also showed prominent glial tauopathy consistent with an aging-related tau astrogliopathy.
|
30545478 |
2019 |
|
rs886039227
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conjunction with long disease duration and aging, our findings suggest that the F52L DCTN1 mutation may evoke severe tauopathy and moderate α-synucleinopathy.
|
29499916 |
2018 |
|
rs893595382
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition to classic markers of tauopathy, significant neuroinflammation and extensive gliosis were detected in AAV1-Tau(P301L) mice.
|
26276810 |
2015 |
|
rs893595382
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Stress c-Jun N-terminal Kinase Signaling Pathway Activation Correlates with Synaptic Pathology and Presents A Sex Bias in P301L Mouse Model of Tauopathy.
|
30315879 |
2018 |
|
rs1189501362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs281860580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tau silencing by siRNA in the P301S mouse model of tauopathy.
|
25687501 |
2014 |
|
rs769483065
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These observations in vitro and cell lines are recapitulated in primary neurons and in vivo, as genetic reduction in RanBP9 not only ameliorates tauopathy in Tau-P301S mice but also rescues the deficits in synaptic integrity and plasticity.
|
29016855 |
2017 |
|
rs34637584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data suggest that mutant tau-induced neuropathology occurs independently of LRRK2 expression in two mouse models of tauopathy but identifies a novel pathogenic role for G2019S-LRRK2 in promoting the neuronal transmission of WT-tau protein.
|
29088368 |
2018 |
|
rs866604606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs1348073540
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Stress c-Jun N-terminal Kinase Signaling Pathway Activation Correlates with Synaptic Pathology and Presents A Sex Bias in P301L Mouse Model of Tauopathy.
|
30315879 |
2018 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
|
27859539 |
2017 |