Alexandra Peña

Missense variants in the myosin binding domains of MYBPC3 and MYBPHL impair sarcomere incorporation

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.

MYBPHL nonsense mutations have poor sarcomere binding, are degraded, and cause abnormal contraction

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