Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology
Andrew C. Edmondson, Rohit Budhraja, Zijie Xia, Ashley J. Melendez-Perez, Cadmus Cai, Silvia Radenkovic, Ashley M. Collins, Emily J. Shiplett, Sophie F. Hill, Ala Somarowthu, Johanna Dam, Ling-Lin Pai, Mariarita Santi, Seonhee Kim, Miao He, , Zhaolan Zhou
This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.
bioRxiv · Jun 1, 2025 · PreprintNeuroscience