The Chemical Chaperone 4-Phenylbutyric Acid Rescues Molecular Cell Defects of COL3A1 Mutations That Cause Vascular Ehlers Danlos Syndrome

Analysis of two novel COL3A1 glycine mutations, G189S and G906R, in primary patient fibroblast cultures revealed secretion of misfolded collagen III and intracellular collagen retention leading to lower extracellular collagen levels.