In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient
These findings could provide valuable insights to inform the development of targeted therapeutic strategies within the framework of personalized medicine.
Authors
- Carla Asteggiano (ORCID: https://orcid.org/0000-0003-4713-2775)
- Mariano Bisbal (ORCID: https://orcid.org/0000-0002-3870-6151)
- Marisa A. Cubilla (ORCID: https://orcid.org/0000-0002-9862-8933)
- Ana Clara Sclausero
Institutions
- Universidad Católica de Córdoba (AR)
- Universidad Nacional de Córdoba (AR)
- Hospital de Niños de la Santísima Trinidad (AR)
- Instituto de Investigación Médica Mercedes y Martín Ferreyra (AR)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-20
- DOI
- https://doi.org/10.3389/fgene.2025.1678103
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universität Heidelberg