An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.

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作者： Ana,Limerick ^[1] ; Ellie A,McCabe ^[1] ; Jacob S,Turner ^[1] ; Kevin W,Kuang ^[1] ; David L,Brautigan ^[2] ; Yi,Hao ^[3] ; Cheuk Ying,Chu ^[1] ; Sean H,Fu ^[1] ; Sean,Ahmadi ^[1] ; Wenhao,Xu ^[2] ; Zheng,Fu ^[1]

作者单位： Department of Pharmacology, University of Virginia, Charlottesville, VA 22908, USA. ^[1] Department of Microbiology, Immunology and Cancer Biology, University of Virginia, Charlottesville, VA 22908, USA. ^[2] Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA 22908, USA. ^[3]

关键词 CILK1 Hedgehog signaling KATNIP epilepsy primary cilia variant

主题词纤毛(Cilia);动物(Animals);猬蛋白质类(Hedgehog Proteins);信号传导(Signal Transduction);小鼠(Mice);癫痫(Epilepsy);人类(Humans);成纤维细胞(Fibroblasts);突变(Mutation)

DOI 10.3390/cells13151258

PMID 39120290

发布时间 2025-01-23

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Cells

2024年13卷15期

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An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.

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An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.

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