Lorena Cussó

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 loss of Vhl in astrocytes disrupts astrocyte-endothelial crosstalk, leading to hemangioblastoma formation in VHL disease.

This study shows that loss of CnAβ1 enhances brown adipocyte differentiation and metabolic activity through FoxO1 activation, leading to improved insulin sensitivity and reduced body weight on a high-fat diet.