Article
An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.
Cells - 26 Jul 2024
Limerick Ana, McCabe Ellie A, Turner Jacob S, Kuang Kevin W, Brautigan David L, Hao Yi, Chu Cheuk Ying, Fu Sean H, Ahmadi Sean, Xu Wenhao, Fu Zheng
Abstract excerpt
Mutations in human CILK1 (ciliogenesis associated kinase 1) are linked to ciliopathies and epilepsy. Homozygous point and nonsense mutations that extinguish kinase activity impair primary cilia function, whereas mutations outside the kinase domain are not well understood. Here, we produced a knock-in mouse equivalent to the human CILK1 A615T variant identified in juvenile myoclonic epilepsy (JME). This residue is...
Topics
- Cilia
- Animals
- Hedgehog Proteins
- Signal Transduction
- Mice
- Epilepsy
- Humans
- Fibroblasts
- Mutation
- Protein Serine-Threonine Kinases