Hannah E. Cizauskas

The paper investigates how missense variants in MYBPC3 and MYBPHL affect sarcomere incorporation by expressing variants in cardiomyocytes and assessing their localization and stoichiometric effects.

The paper investigates MYBPHL nonsense mutations, showing they impair sarcomere incorporation, lead to protein degradation, and cause contractile defects in cardiomyocytes.

This study identifies proteolytic degradation of atrial sarcomere proteins as a mechanism underlying contractile defects in atrial fibrillation.