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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2024-07-01
coleção:	Cells
Assuntos:	CILK1 KATNIP epilepsy variant primary cilia Hedgehog signaling
Acesso em linha:	https://www.mdpi.com/2073-4409/13/15/1258
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