ZMPSTE24 Missense Mutations that Cause Progeroid Diseases Decrease Prelamin A Cleavage Activity and/or Protein Stability
E. Spear, E.-T. Hsu, L. Nie, E. P. Carpenter, C. Hrycyna, S. Michaelis
This paper identifies ZMPSTE24 missense mutations that impair prelamin A cleavage, classifying them into activity, stability, or dual defects and showing potential therapeutic rescue strategies.
bioRxiv · May 21, 2018Cell Biology