p(HGNC:MAPT, var("p.P301L")) association path(MESH:"Frontotemporal Dementia")

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PubMed:24027553

PSA was identified as a potential player in tau pathology through a microarray analysis of gene expression in disease-vulnerable vs. disease-resistant brain regions in JNPL3 mice that overexpress a mutant form of tau (P301L) found in the disease frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). These mice develop neurodegeneration in the cortex while the cerebellum is relatively spared [although in the original description of these animals pathology was found in the deep cerebellar nuclei (27)].

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• p(MGI:Mapt, var("p.P301L")) association path(HBP:Neurodegeneration)
• path(HBP:Neurodegeneration) association p(MGI:Mapt, var("p.P301L"))
• path(MESH:"Frontotemporal Dementia") association p(HGNC:MAPT, var("p.P301L"))

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