Jorge Alegre‐Cebollada

This study shows that methylglyoxal-derived glycation increases nuclear stiffness and alters mechanosensitive signaling in cells and tissues.

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 identifies abnormal ventricular wall patterning as a driver of MYBPC3-related hypertrophic cardiomyopathy through disrupted cardiomyocyte proliferation and Prdm16 regulation.

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 investigates altered myosin super-relaxation and energy metabolism in type II diabetes using muscle biopsies and proteomic analyses, finding increased super-relaxation and reduced ATP demand.

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.