Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction
The results of this study expand the understanding of GALNS gene splicing, indicating hotspots for splicing mutations. The presented data not only help to increase the diagnostic yield for MPS IVA but also unveil new therapeutic approaches for a number of MPS IVA patients.
Authors
- Ekaterina Zakharova (ORCID: https://orcid.org/0000-0001-9545-9807)
- Igor O. Bychkov (ORCID: https://orcid.org/0000-0002-6594-6126)
- Elza Shchukina (ORCID: https://orcid.org/0009-0003-5351-2835)
Institutions
- Research Centre for Medical Genetics (RU)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-05-17
- DOI
- https://doi.org/10.1186/s10020-025-01243-0
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Ministry of Science and Higher Education of the Russian Federation