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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2024-07-01
Edice:	Cells
Témata:	CILK1 KATNIP epilepsy variant primary cilia Hedgehog signaling
On-line přístup:	https://www.mdpi.com/2073-4409/13/15/1258
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!