Indeed, previous studies have shown that synaptic connections between motor neurons and skeletal muscles are highly disturbed in ALS such that neuromuscular junction damages may occur in the initial stages of the disease.47 Furthermore, enrichment of extracellular matrix organization genes such as different collagens points towards other aspects of the VCP mutations that are associated with musculoskeletal disorders.48 We sought to further validate the role of SART3 in regulating intron retention in non-cancer cells (BJ cells). This evidence concerns the gene VCP and musculoskeletal system disorder.