The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome
Ramla Omar, Michelle Lee, Laura Gonzalez-Trueba, Spyridonas Lianos, Snoopy Hazarika, Malak A Ammar, Jennifer E. Cassels, Alison M. Michie, Neil John Bulleid, Fransiska Malfait, Tom Van Agtmael
This study shows that 4-phenylbutyric acid rescues molecular defects in COL3A1 mutations causing vEDS by reducing ER stress and improving collagen secretion.
bioRxiv · Jun 20, 2024 · PreprintGenetics