UBA1 and proximal spinal muscular atrophy: To explore the potential role and relevance of the UBA1/GARS pathway in SMA pathogenesis further, we next wanted to establish whether GARS protein was disrupted in SMA in vivo. Furthermore, to investigate the wider effects of UBA1 on tRNA synthetases, we quantified the expression of the tRNA-synthetase YARS in SMA mice; mutations in YARS cause dominant intermediate CMT type C (DI-CMTC) (Jordanova et al., 2006).