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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Egile Nagusiak:	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
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	MDPI AG 2024-07-01
Saila:	Cells
Gaiak:	CILK1 KATNIP epilepsy variant primary cilia Hedgehog signaling
Sarrera elektronikoa:	https://www.mdpi.com/2073-4409/13/15/1258
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