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

dbSNP: rs63751438
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

dbSNP: rs63751438
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

dbSNP: rs63751438
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