A glucosylcholesterol-cytoskeleton axis links GBA2 loss-of-function to synaptic and mitochondrial pathology in Hereditary Spastic Paraplegia
Angelica Casotto, Chiara Sinisgalli, Francesca Terrin…·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.