Article
Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress.
Human molecular genetics - 15 Nov 2018
Yuan Shauna H, Hiramatsu Nobuhiko, Liu Qing, Sun Xuehan Victoria, Lenh David, Chan Priscilla, Chiang Karen, Koo Edward H, Kao Aimee W, Litvan Irene, Lin Jonathan H
Abstract excerpt
Tauopathies are neurodegenerative diseases characterized by tau protein pathology in the nervous system. EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3), also known as PERK (protein kinase R-like endoplasmic reticulum kinase), was identified by genome-wide association study as a genetic risk factor in several tauopathies. PERK is a key regulator of the Unfolded Protein Response (UPR), an...
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