|
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 |
|
rs1235134025
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
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 |
|
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 |
|
rs752410089
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
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 |
|
rs776045205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
rs780325052
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice.
|
31156179 |
2019 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs63750416
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Increased 4R tau expression and behavioural changes in a novel MAPT-N296H genomic mouse model of tauopathy.
|
28233851 |
2017 |
|
rs763872192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuroprotective effects of low fat-protein diet in the P301L mouse model of tauopathy.
|
28456717 |
2017 |
|
rs769483065
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These observations in vitro and cell lines are recapitulated in primary neurons and in vivo, as genetic reduction in RanBP9 not only ameliorates tauopathy in Tau-P301S mice but also rescues the deficits in synaptic integrity and plasticity.
|
29016855 |
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 |
|
rs281860580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tau silencing by siRNA in the P301S mouse model of tauopathy.
|
25687501 |
2014 |
|
rs1300858963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301S-htau-positive neurons grew aberrant axons, including spheroids, typically found in human tauopathies.
|
24227726 |
2013 |
|
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 |
|
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 |