Open access
Sep 2026
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.
S. Efthymiou, K. Tabata, H. Dafsari et al.
· medRxiv · 0 citations