An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling

An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling

Mutations in human <i>CILK1</i> (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...

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Bibliographic Details
Main Authors: Ana Limerick, Ellie A. McCabe, Jacob S. Turner, Kevin W. Kuang, David L. Brautigan, Yi Hao, Cheuk Ying Chu, Sean H. Fu, Sean Ahmadi, Wenhao Xu, Zheng Fu
Format: Article
Language:English
Published: MDPI AG 2024-07-01
Series:Cells
Subjects:
CILK1
KATNIP
epilepsy
variant
primary cilia
Hedgehog signaling
Online Access:https://www.mdpi.com/2073-4409/13/15/1258

Internet

https://www.mdpi.com/2073-4409/13/15/1258

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