MYBPHL nonsense mutations have poor sarcomere binding, are degraded, and cause abnormal contraction
A. Alvarez-Arce, G. Fritzmann, H. Burnham, K. Araujo, A. Pena, L. Wittenkeller, D. Y. Barefield
The paper investigates MYBPHL nonsense mutations, showing they impair sarcomere incorporation, lead to protein degradation, and cause contractile defects in cardiomyocytes.
bioRxiv · Jul 1, 2024 · PreprintPhysiology