Clara Tuccari di San Carlo
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Clara Tuccari di San Carlo has a total of 7 co-authors. Here are the top co-authors by number of shared publications:
- Antonella Riva
Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
1 shared publication - Antonio Falace
Pediatric Neurology and Muscular Diseases Unit, IRCCS G. Gaslini, Full Member of ERN-EPICARE, 16147 Genoa, Italy
1 shared publication - Beatrice Risso
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Full Member of ERN-EPICARE, 16147 Genoa, Italy
1 shared publication - Federico Zara
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
1 shared publication - Greta Volpedo
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy
1 shared publication - Pasquale Striano
Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
1 shared publication
Latest Publications
- Open Access
- 28 November 2025
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 26 (23) , 11560
SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights
SLC35A2 encodes the Golgi uridine diphosphate galactose transporter, which is essential for glycosylation of glycoproteins and glycolipids. Variants in this gene, either germline or somatic, have emerged as causes of diverse neurological disorders ranging from congenital disorders of glycosylation (SLC35A2-CDG) to focal cortical malformations such as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). This review summarizes the molecular function of SLC35A2, clinical phenotypes of congenital and somatic variants, insights from functional assays and animal models, and therapeutic perspectives including galactose supplementation and precision medicine. We aim to provide an integrative synthesis of human genetics, neuropathology, glycomics, and translational approaches.
- 28 November 2025
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 26 (23) , 11560
Open AccessSLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights
SLC35A2 encodes the Golgi uridine diphosphate galactose transporter, which is essential for glycosylation of glycoproteins and glycolipids. Variants in this gene, either germline or somatic, have emerged as causes of diverse neurological disorders ranging from congenital disorders of glycosylation (SLC35A2-CDG) to focal cortical malformations such as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). This review summarizes the molecular function of SLC35A2, clinical phenotypes of congenital and somatic variants, insights from functional assays and animal models, and therapeutic perspectives including galactose supplementation and precision medicine. We aim to provide an integrative synthesis of human genetics, neuropathology, glycomics, and translational approaches.