Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophy
These findings demonstrate that SMN deficiency dysregulates taurine homeostasis in the CNS of overt symptomatic mouse models and SMA1 patients. They also reveal the therapeutic efficacy of Nusinersen treatment in correcting this amino acid deficit. However, further research is needed to determine the mechanisms by which SMN deficiency causes taurine dysregulation and its potential contribution to SMA pathology.
Authors
- Alessandro Usiello (ORCID: https://orcid.org/0000-0001-9203-853X)
- Livio Pellizzoni (ORCID: https://orcid.org/0000-0002-9168-5628)
- Chiara Panicucci (ORCID: https://orcid.org/0000-0003-4571-611X)
- Anna Caretto (ORCID: https://orcid.org/0000-0002-9798-8304)
- Raffaella di Vito (ORCID: https://orcid.org/0000-0003-1661-3517)
- Francesco Errico (ORCID: https://orcid.org/0000-0002-3636-7395)
- Tommaso Nuzzo (ORCID: https://orcid.org/0000-0002-8657-2098)
- Alessandro Vercelli (ORCID: https://orcid.org/0000-0002-5909-2128)
- Marina Boido (ORCID: https://orcid.org/0000-0003-1211-1552)
- Claudio Bruno
- Adele D’Amico
- Enrico Bertini
- Amber Hassan
Institutions
- University of Campania "Luigi Vanvitelli" (IT)
- Istituto Giannina Gaslini (IT)
- European School of Molecular Medicine (IT)
- Neuroscience Institute (IT)
- Federico II University Hospital (IT)
- Bambino Gesù Children's Hospital (IT)
- University of Campania "Luigi Vanvitelli" (IT)
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Turin (IT)
- University of Naples Federico II (IT)
- Columbia University (US)
- University of Genoa (IT)
Publication Details
- Journal
- Communications Medicine
- Published
- 2026-02-16
- DOI
- https://doi.org/10.1038/s43856-026-01434-8
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute
- Università degli Studi di Torino
- National Institutes of Health