Cell BiologyCellsPeer-reviewed
An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling
Ana Limerick, Ellie A. McCabe, Jacob S. Turner…·Zheng Fu
This study shows that a CILK1 variant linked to epilepsy impairs primary cilia and Hedgehog signaling by disrupting KATNIP regulation in mouse cells.
2 citations