di Vito, Hassan et al. investigate the impact of SMN deficiency on taurine homeostasis in SMA mice and patients. They find reduced taurine levels in both the brainstem of SMA mice and in the cerebrospinal fluid of SMA type 1 patients. Importantly, Nusinersen treatment restores taurine levels in these children, highlighting the essential role of SMN in maintaining amino acid and neurotransmitter balance.
- Raffaella di Vito
- Amber Hassan
- Alessandro Usiello
