Progressive protein aggregation in PRPF31 patient retinal pigment epithelium cells: the mechanism and its reversal through activation of autophagy
M. Georgiou, C. Yang, R. Atkinson, K.-T. Pan, A. Buskin, M. Moya Molina, J. Collin, J. Al-Aama, F. Goertler, S. E. J. Ludwig, T. Davey, R. Luhrmann, S. Nagaraja-Grellscheid, C. Johnson, R. Ali, , M. Lako
This study shows that PRPF31 mutations cause progressive protein aggregation in RPE cells, which can be reversed by autophagy activation.
bioRxiv · Oct 11, 2021 · PreprintCell Biology