|
rs376388064
|
|
|
0.010 |
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 |
|
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 |
|
rs398122403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389).
|
29179256 |
2018 |
|
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 |
|
rs1300858963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301S-htau-positive neurons grew aberrant axons, including spheroids, typically found in human tauopathies.
|
24227726 |
2013 |
|
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 |
|
rs587778556
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The present study examined the effects of MB in the P301S mouse model of tauopathy.
|
24556215 |
2014 |
|
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 |
|
rs755135182
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The present study examined the effects of MB in the P301S mouse model of tauopathy.
|
24556215 |
2014 |
|
rs768194029
|
|
|
0.010 |
GeneticVariation |
BEFREE |
S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy.
|
30696811 |
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 |
|
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 |
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 |
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 |
We evaluated two structurally similar natural compounds, morin and resveratrol, for treating tauopathy in JNPL3 P301L mutant human tau overexpressing mice.
|
30479844 |
2018 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Neuroprotective effects of low fat-protein diet in the P301L mouse model of tauopathy.
|
28456717 |
2017 |
|
rs63751273
|
|
|
0.100 |
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 |
|
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 |
|
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 |
|
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 |
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 |
|
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 |
|
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 |
|
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 |