Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish

Abstract

Butti et al. generate a C9orf72 loss-of-function model in zebrafish. They find that that C9orf72 is required for presynaptic vesicle trafficking and release at the zebrafish larval neuromuscular junctions. This study provides functional insights into the pathogenesis of amyotrophic lateral sclerosis and fronto-temporal dementia.