Genetic & Genomic MedicinemedRxivPreprint
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari…·Henry Houlden
This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.
DOI 10.64898/2026.08.27.26360298