KMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation
Michele Gabriele, Alessandro Vitriolo, Sara Cuvertino, Marlene F. Pereira, Celeste Franconi, Pierre‐Luc Germain, Daniele Capocefalo, Davide Castaldi, Erika Tenderini, Nicholas Burdon Bèchet, Catherine B. Millar, Tom S. Koemans, Nitin Sabherwal, Connie T.R.M. Schrander-Stumpel, Monica Frega, , Giuseppe Testa
This study investigates how KMT2D mutations in Kabuki Syndrome disrupt neuronal function through chromatin and transcriptional changes, independent of H3K4me1.
bioRxiv · Apr 22, 2021 · PreprintGenetics