|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein.
|
12127682 |
2002 |
|
rs760073870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein.
|
12127682 |
2002 |
|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
P301S mutant human tau transgenic mice manifest early symptoms of human tauopathies with dementia and altered sensorimotor gating.
|
21698260 |
2011 |
|
rs1300858963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301S-htau-positive neurons grew aberrant axons, including spheroids, typically found in human tauopathies.
|
24227726 |
2013 |
|
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 |
|
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
|
10412802 |
1999 |
|
rs63750635
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
|
11891833 |
2002 |
|
rs63750570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules.
|
11170176 |
2001 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules.
|
11170176 |
2001 |
|
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 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here we used the non-invasive, Manganese-Enhanced Magnetic Resonance Imaging technique (MEMRI), to study for the first time a pure model of tauopathy, the JNPL3 transgenic mouse line, which overexpresses a mutated (P301L) form of the human tau protein.
|
22960250 |
2013 |
|
rs775645890
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, to address the role of p25/Cdk5 in tauopathy, we generated double-transgenic mice by crossing mice overexpressing mutant human tau (P301S) with Δ<i>p35KI</i> mice.
|
28912154 |
2017 |
|
rs779612015
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, to address the role of p25/Cdk5 in tauopathy, we generated double-transgenic mice by crossing mice overexpressing mutant human tau (P301S) with Δ<i>p35KI</i> mice.
|
28912154 |
2017 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Here, we demonstrate that MAPT p.R406W is sufficient to induce changes in GABA-mediated signaling and synaptic function, which may contribute to the pathogenesis of FTLD-tau and other primary tauopathies.
|
30546007 |
2018 |
|
rs63751273
|
|
|
0.100 |
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 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here, we showed that Aβ-induced tau hyperphosphorylation and neurodegeneration, including tau phosphorylation, synaptic disorder and neuronal loss, in the brains of both male wild-type (Wt) mice and male P301L transgenic mice (a mouse model of human tauopathy) were alleviated by genetic knockout of p75<sup>NTR</sup> in the both mouse models.
|
31394202 |
2019 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Immunophilin FKBP52 induces Tau-P301L filamentous assembly in vitro and modulates its activity in a model of tauopathy.
|
24623856 |
2014 |
|
rs63751273
|
|
|
0.100 |
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 |
In addition to classic markers of tauopathy, significant neuroinflammation and extensive gliosis were detected in AAV1-Tau(P301L) mice.
|
26276810 |
2015 |
|
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 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the present study, we employed a somatic cell gene transfer technique to create a rodent model of tauopathy by injecting a recombinant adeno-associated viral vector with a mutated human tau gene (P301L) into the hippocampus of adult rats.
|
22561128 |
2012 |
|
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 |
|
rs587778556
|
|
|
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 |
|
rs755135182
|
|
|
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 |
|
rs63751273
|
|
|
0.100 |
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 |