An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling
A. Limerick, E. A. McCabe, J. S. Turner, K. W. Kuang, D. L. Brautigan, Y. Hao, C. Chu, S. Fu, S. Ahmadi, W. Xu, Z. Fu
This study shows that a CILK1 variant linked to epilepsy impairs primary cilia and Hedgehog signaling by disrupting KATNIP regulation in mouse cells.
bioRxiv · May 14, 2024Cell Biology