Human-Specific Regulation of CHD2 Controls the Tempo of Cortical Development through Lysosomal Homeostasis
Oliviero Leonardi, Elly Lewerissa, Davide Aprile, Tahsin Stefan Barakat, Lorenza Culotta, Ruizhi Deng, Linda Haazen, Katrin Linda, Marian Majoie, Annika Mordelt, Aurelio Ortale, Astrid R. Oudakker, Filippo Prazzoli, Sofía Puvogel, Nicky Scheefhals, , Nael Nadif Kasri
This study identifies a human-specific CHD2 regulatory variant that influences cortical development tempo via lysosomal homeostasis, showing therapeutic potential through lysosomal restoration.
bioRxiv · Jan 21, 2025 · PreprintNeuroscience