The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

Abstract Vascular Ehlers Danlos Syndrome (vEDS) is a connective tissue disorder caused by COL3A1 mutations for which there are no treatments due to a limited understanding of underlying mechanisms. We aimed to identify the molecular insults of mutations, focusing on collagen folding, to establish if...

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Main Authors: Ramla Omar, Michelle AW Lee, Laura Gonzalez-Trueba, Cameron R. Thomson, Uwe Hansen, Spyridonas Lianos, Snoopy Hazarika, Omar HMEH El Abdallah, Malak A. Ammar, Jennifer Cassels, Alison M. Michie, Neil J. Bulleid, Fransiska Malfait, Tom Van Agtmael
Format: Article
Language:English
Published: Nature Publishing Group 2025-04-01
Series:Cell Death Discovery
Online Access:https://doi.org/10.1038/s41420-025-02476-y
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