Article
Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.
Cells - 12 Mar 2020
Wang Eric J, Gailey Casey D, Brautigan David L, Fu Zheng
Abstract excerpt
Ciliopathies are a group of human genetic disorders associated with mutations that give rise to the dysfunction of primary cilia. Ciliogenesis-associated kinase 1 (CILK1), formerly known as intestinal cell kinase (ICK), is a conserved serine and threonine kinase that restricts primary (non-motile) cilia formation and length. Mutations in CILK1 are associated with ciliopathies and are also linked to juvenile...
Topics
- Animals
- Cilia
- HEK293 Cells
- Humans
- Mice
- Mutation
- Myoclonic Epilepsy, Juvenile
- NIH 3T3 Cells
- Phosphorylation
- Protein Serine-Threonine Kinases
- Transfection