|
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 |
|
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 |
|
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 |
|
rs1235134025
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
rs1235948930
|
|
|
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 |
|
rs1300858963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301S-htau-positive neurons grew aberrant axons, including spheroids, typically found in human tauopathies.
|
24227726 |
2013 |
|
rs1314736087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, our genetically matched mice have revealed that 4R NM hTau over expression is pathogenic in a manner distinct from classical aging-related tauopathy, underlining the importance of assaying the effects of transgenic disease-related proteins at appropriate stages in life.<b>SIGNIFICANCE STATEMENT</b>Due to differences in creation of transgenic lines, the pathological properties the P301L mutation confers to the tau protein <i>in vivo</i> have remained elusive, perhaps contributing to the lack of disease-modifying therapies for tauopathies.
|
31685653 |
2020 |
|
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 |
|
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 |
|
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 |
|
rs1424794503
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MFGE8 expression is elevated in transgenic P301S-tau mouse brains with tau inclusions and in tau inclusion-rich brain regions of several human tauopathies, indicating shared mechanisms of disease.
|
30134156 |
2018 |
|
rs143624519
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The A152T-variant of human tau (hTau-A152T) increases the risk of Alzheimer's disease (AD) and several other tauopathies.
|
29859869 |
2018 |
|
rs143624519
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A C. elegans model of tauopathy reveals that A152T and A152E tau confer patterns of developmental toxicity distinct from WT tau, likely due to differential effects on retrograde axonal transport.
|
30590647 |
2019 |
|
rs143624519
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Providing new insight into the role of A152T in modifying risk of tauopathy, as well as validating the Tau<sup>A152T</sup>-AAV model, we demonstrate that the presence of soluble pT153-positive tau species in human postmortem brain tissue differentiates A152T carriers from noncarriers, independent of disease classification.
|
30674342 |
2019 |
|
rs143624519
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7.
|
21176711 |
2011 |
|
rs143624519
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
|
22595371 |
2012 |
|
rs143624519
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We report a human neuronal model of tauopathy derived from induced pluripotent stem cells (iPSCs) carrying a TAU-A152T mutation.
|
24319659 |
2013 |
|
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 |
|
rs242557
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The microtubule-associated protein tau gene (<i>MAPT</i>) rs242557 variant is associated with multiple tauopathies and dementia.
|
30708351 |
2019 |
|
rs281860580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tau silencing by siRNA in the P301S mouse model of tauopathy.
|
25687501 |
2014 |
|
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 |