Article

Promoting translational readthrough to augment fibrillin-1 (FBN1) deposition in Marfan syndrome fibroblasts: A proof-of-concept study

2022-11-24

Abstract excerpt

Marfan syndrome (MFS) is a connective tissue disorder characterized by long bone overgrowth, enlargement of the aorta, ocular anomalies and other symptoms. Current treatment focuses on managing aortic aneurysms to avoid dissection or rupture. However, no cures are available. MFS is caused by one of >1,800 dominant pathogenic variants in FBN1 , which encodes the extracellular matrix (ECM) protein fibrillin-1. A si...

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Literature Corpus work: 7f3ca1f3-b3dd-5085-9078-0c591ad040ff
DOI: 10.1101/2022.11.23.517642

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