PhysiologyThe Journal of General PhysiologyPeer-reviewed
MYBPHL nonsense mutations have poor sarcomere binding, are degraded, and cause abnormal contraction
Alejandro Álvarez-Arce, Geena E. Fritzmann, Hope V. Burnham…·David Y. Barefield
The paper investigates MYBPHL nonsense mutations, showing they impair sarcomere incorporation, lead to protein degradation, and cause contractile defects in cardiomyocytes.
2 citations