Open access
Sep 2026
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
Pathogenic variants in RUBCN, encoding the Run domain Beclin-1 interacting and cysteine-rich domain-containing protein (Rubicon) have been implicated in autosomal recessive spinocerebellar ataxia 15 (SCAR15). However, the molecular mechanisms underlying disease pathogenesis remain poorly understood. Here, we report 18...
S. Efthymiou, K. Tabata, H. Dafsari et al.
· medRxiv · 0 citations