ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG
Rameen Shah, Rohit Budhraja, Silvia Radenkovic, Graeme J. Preston, Alexia Tyler King, Sahar Sabry, Charlotte Bleukx, Ibrahim Shammas, Lyndsay E.A. Young, Jisha Chandran, Seul Kee Byeon, Ronald F. Hrstka, Doughlas Y Smith, Nathan P. Staff, Richard R. Drake, , Tamás Kozicz
This study uses cortical organoids to show that ALG13 loss-of-function causes glycosylation defects, neuronal maturation issues, and network hypoactivity in CDG.
bioRxiv · Jul 9, 2025 · PreprintNeuroscience