Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA
we provide the proof-of-concept for the use of modified GAA-tailored U1 snRNAs, designed to potentiate the recognition of the GAA exon 2 5'ss, as therapeutic tools to correct the aberrant transcripts carrying variants that affect exon 2 splicing, including the common c.-32-13T>G variant.
Authors
- Natascha Bergamin
- Alessandra Longo (ORCID: https://orcid.org/0000-0002-2375-5698)
- Emanuele Buratti (ORCID: https://orcid.org/0000-0002-1356-9074)
- Sara Cappelli (ORCID: https://orcid.org/0000-0002-5001-3905)
- Elisa Goina
- Andrea Dardis (ORCID: https://orcid.org/0000-0001-7024-8181)
- Cristiana Stuani
- Paolo Peruzzo (ORCID: https://orcid.org/0000-0001-5216-8719)
- Martina Bon
Institutions
- Ospedale Santa Maria della Misericordia di Udine (IT)
- International Centre for Genetic Engineering and Biotechnology (IT)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1186/s10020-025-01090-z
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.33
Funders
- AFM-Téléthon