Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome
Anna Wenninger, James Knopp, Steven Frye, Alexander Weaver, Neil McAdams, Sean Miller, Toshihiro Nomura, Ava Whitlark, Jack Swantkowski, Alexandra Noble, Caroline Lavender, Sandy Nam, Cameron MacKenzie, Isabella Wiebelt-Smith, Charles Sander, , Christopher Patzke
This study uses human and mouse models to show that Kabuki syndrome mutations cause an imbalance in excitatory and inhibitory synapses, leading to synaptic dysfunction and intellectual disability.
bioRxiv · Oct 4, 2024 · PreprintNeuroscience