Timothy C. Hoey

This study demonstrates the use of in vivo prime editing to correct a cardiomyopathy-causing mutation in a humanized mouse model, rescuing disease phenotypes.

This study shows that a rare splice mutation in SYNPO2L leads to increased SYNPO2L_B isoform expression, impairing atrial cardiomyocyte function, and that restoring SYNPO2L_A improves electrophysiology and contractility via YAP signaling.

This study demonstrates that AAV gene therapy with TN-201 restores MYBPC3 protein levels, reverses cardiac hypertrophy, and improves survival in a murine model of MYBPC3-associated HCM.

This study identifies metabolic defects in PKP2-deficient cardiomyocytes and shows that restoring PKP2 improves contractility and electrophysiological properties.