A glucosylcholesterol-cytoskeleton axis links GBA2 loss-of-function to synaptic and mitochondrial pathology in Hereditary Spastic Paraplegia
Angelica Casotto, Chiara Sinisgalli, Francesca Terrin, L. Presicce, Nicola Facchinello, Nianzhe He, Stefania Marcotti, Marco Dal Maschio, Filippo Maria Santorelli, Luca Laraia, Luisa Dalla Valle, Nicoletta Plotegher
This study identifies a GlcChol-RAC1-actin signaling axis linking GBA2 loss-of-function to synaptic and mitochondrial dysfunction in SPG46, with Rac1 inhibition rescuing disease phenotypes in a zebrafish model.
bioRxiv · Aug 31, 2026 · PreprintNeuroscience