CORDIS Project
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This project aims to model a neurodevelopmental disorder linked to glycosylation by creating organoids that mimic the condition. It will explore the underlying mechanisms of the disorder to identify potential therapeutic approaches.
An increasing number of neurodevelopmental pathologies are associated with disorders of glycosylation.
One such disorder is MOGHE (Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy), which is primarily caused by brain somatic mutations in the gene SLC35A2.
This gene encodes the sole known ER/Golgi UDP-galactose transporter, and mutations in SLC35A2 result in loss of galactose from glycans.
The only therapeutic approach to control MOGHE-related seizures is s…
INSTITUT DU CERVEAU ET DE LA MOELLE EPINIERE
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