Pharmaco-genetic evidence of presymptomatic lysosomal dysfunction coupled to detrimental DPR secretion in Drosophila Models of C9orf72-linked ALS/FTD.
P. H. Smeele, V. Ferrari, G. Spina, E. Dona', R. Cauchi, A. Poletti, Thomas Vaccari
This study shows that C9orf72 repeat expansions cause presymptomatic lysosomal dysfunction in Drosophila, leading to DPR secretion and neurotoxicity, which can be mitigated by valproic acid.
bioRxiv · Nov 10, 2026 · PreprintNeuroscience