María Rosaria Pricolo

This study shows that myosin inhibition with mavacamten is effective in treating HCM caused by both truncating and missense variants in MYBPC3, despite different pathomechanisms.

This study shows that inducing sarcomere disassembly in cardiomyocytes via titin cleavage does not lead to cell proliferation, suggesting additional factors are needed for cardiomyocyte division.

This study shows that glycation of cardiac titin increases in diabetes, leading to protein and cardiomyocyte stiffening through crosslinking advanced glycation end products.

This study shows that titin cleavage drives cardiomyocyte disengagement and fibrosis in heart disease, contributing to myocardial remodeling.

The paper assesses the pathogenicity of a variant of uncertain significance in MYBPC3 using bioinformatics and functional studies of protein stability.