|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
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 |
|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thus, transgenic mice expressing mutant (for example, P301S) human tau in nerve cells show the essential features of tauopathies, including neurodegeneration and abundant filaments made of hyperphosphorylated tau protein.
|
19503072 |
2009 |
|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tau silencing by siRNA in the P301S mouse model of tauopathy.
|
25687501 |
2014 |
|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study examined the effects of MB in the P301S mouse model of tauopathy.
|
24556215 |
2014 |
|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mice transgenic for human P301S tau protein exhibit many characteristics of human tauopathies, including neurodegeneration, the formation of neuronal tau inclusions in the brain and the development of a pronounced motor phenotype by 5 months of age.
|
20004218 |
2010 |
|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The P301S mutation in exon 10 of the tau gene causes a hereditary tauopathy.
|
25437199 |
2014 |
|
rs63751438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thus, substituting a single lysine residue in the context of a P301S disease-linked mutation produces a unique tau species that abrogates some of the cardinal features of tauopathy.
|
31543505 |
2019 |
|
rs63751438
|
|
|
0.100 |
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 |
|
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 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To evaluate whether tauopathies alter the GABAergic SHP, we analyzed transgenic mice expressing human mutated Tau (mutations G272V, P301L, and R406W, VLW transgenic strain).
|
27743524 |
2017 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease.
|
12368474 |
2002 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Interestingly, FTLD-tau cases with MAPT mutations had similar patterns and severity of neuropathological features to sporadic FTLD-tau subtypes and could be classified into: Pick's disease (K257T), corticobasal degeneration (S305S, IVS10+16, R406W), progressive supranuclear palsy (S305S) or globular glial tauopathy (P301L, IVS10+16).
|
29253099 |
2018 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) and causes a hereditary tauopathy that clinically resembles Alzheimer's disease (AD).
|
16182262 |
2005 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To examine the effects of tau gene mutations and the role of tau abnormalities in neurodegenerative tauopathies, transgenic (Tg) mice were engineered to express the longest human tau isoform (T40) with or without the R406W mutation (RW and hWT Tg mice, respectively) that is pathogenic for FTDP-17 in several kindreds.
|
15140937 |
2004 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To gain more insights into the pathomechanism of tauopathies, we performed an RNAi-based large-scale screen in Drosophila melanogaster to identify genetic modifiers of Tau[R406W]-induced toxicity.
|
25794683 |
2015 |
|
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 |
|
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 |