Article
Genetic knock-in of EIF2AK3 variants reveals differences in PERK activity in mouse liver and pancreas under endoplasmic reticulum stress.
Scientific reports - 11 Oct 2024
Ghura Shivesh, Beratan Noah R, Shi Xinglong, Alvarez-Periel Elena, Bond Newton Sarah E, Akay-Espinoza Cagla, Jordan-Sciutto Kelly L
Abstract excerpt
Common single-nucleotide variants (SNVs) of eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) slightly increase the risk of disorders in the periphery and the central nervous system. EIF2AK3 encodes protein kinase RNA-like endoplasmic reticulum kinase (PERK), a key regulator of ER stress. Three exonic EIF2AK3 SNVs form the PERK-B haplotype, which is present in 28% of the global population....
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