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 produced a...

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Prif Awduron:	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
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	MDPI AG 2024-07-01
Cyfres:	Cells
Pynciau:	CILK1 KATNIP epilepsy variant primary cilia Hedgehog signaling
Mynediad Ar-lein:	https://www.mdpi.com/2073-4409/13/15/1258
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