Rescue of a panel of Hemophilia A-causing 5’ss splicing mutations by unique Exon-specific U1snRNA variants
Data highlight the importance of splicing assays to elucidate genotype-phenotype relationships and proved the correction efficacy of ExSpeU1s for each targeted defective F8 exon, thus expanding their translational potential for HA.
Authors
- Mirko Pinotti (ORCID: https://orcid.org/0000-0002-4114-7055)
- Dario Balestra (ORCID: https://orcid.org/0000-0002-6675-9429)
- Laura Peretto (ORCID: https://orcid.org/0009-0005-6922-0612)
- P. Ferraresi (ORCID: https://orcid.org/0000-0001-6742-7832)
- Claudia D’angiolillo
Institutions
- University of Ferrara (IT)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-03-27
- DOI
- https://doi.org/10.1186/s10020-025-01176-8
- Citations
- 1
- Primary Topic
- Cancer-related gene regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- International Center for Genetic Engineering and Biotechnology
- Università degli Studi di Ferrara