Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
0.100 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

dbSNP: rs63751273
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

dbSNP: rs63751438
rs63751438
0.100 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

dbSNP: rs63751438
rs63751438
0.100 GeneticVariation BEFREE Inhibition of Calpain Protects Against Tauopathy in Transgenic P301S Tau Mice. 31156179

2019

dbSNP: rs63751438
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

dbSNP: rs63751273
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

dbSNP: rs63751273
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

dbSNP: rs63751273
rs63751273
0.100 GeneticVariation BEFREE These properties were similar to the biochemical features of P301L mutated human tau in a mouse model of tauopathy. 29772786

2018

dbSNP: rs63751438
rs63751438
0.100 GeneticVariation BEFREE α-Lipoic acid improves abnormal behavior by mitigation of oxidative stress, inflammation, ferroptosis, and tauopathy in P301S Tau transgenic mice. 29126071

2018

dbSNP: rs63751438
rs63751438
0.100 GeneticVariation BEFREE To explore this interaction in vivo, we crossed a well-characterized human P301S-tau transgenic mouse model of tauopathy with human G2019S-LRRK2 transgenic mice or LRRK2 knockout (KO) mice. 29088368

2018

dbSNP: rs63751438
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

dbSNP: rs63751273
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

dbSNP: rs63751273
rs63751273
0.100 GeneticVariation BEFREE Neuroprotective effects of low fat-protein diet in the P301L mouse model of tauopathy. 28456717

2017

dbSNP: rs63751273
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

dbSNP: rs63751273
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

dbSNP: rs63751273
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

dbSNP: rs63751273
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

dbSNP: rs63751273
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

dbSNP: rs63751438
rs63751438
0.100 GeneticVariation BEFREE Tau silencing by siRNA in the P301S mouse model of tauopathy. 25687501

2014

dbSNP: rs63751438
rs63751438
0.100 GeneticVariation BEFREE The present study examined the effects of MB in the P301S mouse model of tauopathy. 24556215

2014

dbSNP: rs63751438
rs63751438
0.100 GeneticVariation BEFREE The P301S mutation in exon 10 of the tau gene causes a hereditary tauopathy. 25437199

2014

dbSNP: rs63751273
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

dbSNP: rs63751273
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

dbSNP: rs63751273
rs63751273
0.100 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

dbSNP: rs63751438
rs63751438
0.100 GeneticVariation BEFREE We further demonstrate that peripheral administration of the same antibodies in the more rapidly progressive P301S tauopathy model not only reduces Tau pathology quantitated by biochemical assays and immunohistochemistry, but also significantly delays the onset of motor function decline and weight loss. 21841002

2011