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...

詳細記述

書誌詳細

主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2024-07-01
シリーズ:	Cells
主題:	CILK1 KATNIP epilepsy variant primary cilia Hedgehog signaling
オンライン･アクセス:	https://www.mdpi.com/2073-4409/13/15/1258
タグ:	タグ追加 タグなし, このレコードへの初めてのタグを付けませんか!