Promoting translational readthrough to augment fibrillin-1 (FBN1) deposition in Marfan syndrome fibroblasts: A proof-of-concept study.
This study shows that translational readthrough drugs like ataluren and gentamicin improve FBN1 deposition in Marfan syndrome fibroblasts with PTC variants.
bioRxiv · Nov 23, 2022 · PreprintCell Biology