Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome
Ludovico Rizzuti, Alessandro Vitriolo, Pelicano de Almeida Mariana, Marlene F. Pereira, Lize Meert, Francesco Dossena, Filippo Prazzoli, Mike R. Dekker, Dick H. W. Dekkers, Jeroen Demmers, Wilfred F. J. van IJcken, Chiara Soriani, Michele Gabriele, Mohiuddin Mohiuddin, Anke Van Dijck, , Giuseppe Testa
This study identifies the ADNP-KDM1A-GTF2I complex as critical for neural differentiation balance in HVDAS by repressing transposable elements and regulating gene transcription.
bioRxiv · Mar 6, 2025 · PreprintNeuroscience