Ontology highlight
ABSTRACT:
SUBMITTER: Sowers CR
PROVIDER: S-EPMC5892574 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Sowers Carrie R CR Wang Rong R Bourne Rebecca A RA McGrath Barbara C BC Hu Jingjie J Bevilacqua Sarah C SC Paton James C JC Paton Adrienne W AW Collardeau-Frachon Sophie S Nicolino Marc M Cavener Douglas R DR
The Journal of biological chemistry 20180214 14
Loss-of-function mutations of the protein kinase PERK (EIF2AK3) in humans and mice cause permanent neonatal diabetes and severe proinsulin aggregation in the endoplasmic reticulum (ER), highlighting the essential role of PERK in insulin production in pancreatic β cells. As PERK is generally known as a translational regulator of the unfolded protein response (UPR), the underlying cause of these β cell defects has often been attributed to derepression of proinsulin synthesis, resulting in proinsul ...[more]