rs63751273, MAPT

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.100 GeneticVariation BEFREE Neuroprotective effects of low fat-protein diet in the P301L mouse model of tauopathy. 28456717 2017
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.100 GeneticVariation BEFREE Immunophilin FKBP52 induces Tau-P301L filamentous assembly in vitro and modulates its activity in a model of tauopathy. 24623856 2014
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.100 GeneticVariation BEFREE P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein. 12127682 2002
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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