Pathogenic O-GlcNAc dyshomeostasis associated with cortical malformations and hyperactivity
Florence Authier, Asad Jan, Islam Mustafa Galal Faress, Christian Stald Skoven, Iria Esperon‐Abril, Shagana Tharmakulasingam Balasubramaniam, Kévin-Sébastien Coquelin, Jens Randel Nyengaard, Carsten Scavenius, Benedetta Attianese, Oscar G Sevillano-Quispe, Simon Fristed Eskildsen, Jesper Skovhus Thomsen, Brian Hansen, Daan M. F. van Aalten
This study investigates a rodent model with an OGT-ID variant, revealing neurodevelopmental defects and behavioural abnormalities linked to O-GlcNAc dyshomeostasis.
eLife · Sep 22, 2026Peer-reviewedNeuroscience