Mice with mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits
Afitz Da Silva, Merrick S. Fallah, Samuel Boris Tene Tadoum, Mehrnaz Fazeli, Irena Josephina Johanna Muffels, Siyan Wang, François Grenier, Rohit Budhraja, Luisa Sturiale, Angela Messina, Moshe Giladi, Mahsa Taherzadeh, Éric Bonneil, Shaukat Khan, Daniëlle te Vruchte, , Alexey V. Pshezhetsky
This study describes a mouse model of DHDDS-CDG, showing seizures, myoclonus, and cognitive deficits linked to glycosylation defects and interneuron abnormalities.
Brain · Sep 11, 2026Peer-reviewedNeuroscience