Abnormal expression of splicing regulators RBFOX and NOVA is associated with aberrant splicing patterns at the Neurexin-3 gene in a monogenic autism spectrum disorder
Pedro K K Forti, Lilian L Depieri, Lucas A. Giorgiani, Breno B. Hernandes, João G. Bueno, Gustavo D. Verçosa, Israel C. Vasconcelos, Mário Henrique Bengtson, Marcelo Falsarella Carazzolle, Antonio P. Camargo, Fábio Papes
The paper investigates splicing regulator dysregulation in Pitt-Hopkins Syndrome neurons and identifies aberrant splicing of the Neurexin-3 gene linked to impaired synapse organization and reduced electrical activity.
bioRxiv · Oct 2, 2025 · PreprintNeuroscience