Inhibition of proteasomal degradation rescues a pathogenic variant of mitochondrial Respiratory chain assembly 1 factor
K. Mohanraj, M. Wasilewski, C. Beninca, D. Cysewski, J. Poznanski, P. Sakowska, M. Deckers, S. Dennerlein, E. Fernandez-Vizarra, P. Rehling, M. Dadlez, M. Zeviani, A. Chacinska
This study shows that inhibiting proteasome degradation rescues mutant RESA1 protein function and complex IV activity in patient-derived fibroblasts.
bioRxiv · Jul 24, 2018Biochemistry