|
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 |
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 |
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 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thus, Pin1 has opposite effects on the tauopathy</span> p</span>henotype depending on whether the tau is WT or a P301L mu</span>tant, indicating the need for disease-specific therapies for tauopathies.
|
18431510 |
2008 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lastly, we have demonstrated that tau is phosphorylated on Tyr-18 in the tau P301L mouse model for tauopathy (JNPL3).
|
16115884 |
2005 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The tauopathy in P301L and G272V does not appear to be associated with an evident increase in CSF levels of Ptau-181 in FTD patients with these tau mutations, in contrast with findings in patients with AD.
|
12975285 |
2003 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein.
|
12127682 |
2002 |
|
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 |
Together, our results show that expression of the P301L mutation in mice causes neuronal lesions that are similar to those seen in human tauopathies.
|
11013246 |
2001 |
|
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 |
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 |
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 |
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 |
|
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 |
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 |
|
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 |
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 |
We report a human neuronal model of tauopathy derived from induced pluripotent stem cells (iPSCs) carrying a TAU-A152T mutation.
|
24319659 |
2013 |
|
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 |
Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7.
|
21176711 |
2011 |
|
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 |
|
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 TauP301L mouse expresses P301L tau under the control of a prion promoter in both neurons and astrocytes, reminiscent of some human tauopathies.
|
28869476 |
2017 |