MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation
Gerarda Cappuccio, Guantong Qi, Xuan Qin, Saleh M. Khalil, John L. Hunyara, Yang Li, Joel Andrew Mathews, Armand Soriano, Sivan Osenberg, Senghong Sing, Toni Claire Tacorda, Luke Parkitny, Jennifer Sheppard, George Timpone, Sergio Attanasio, , Mirjana Maletić‐Savatić
The paper identifies a disrupted mitochondrial-purine metabolism link in MECP2 Duplication Syndrome across multiple models, linking it to neurodevelopmental issues.
bioRxiv · Dec 26, 2025 · PreprintNeuroscience