Cargando…

Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK

CILK1 (ciliogenesis associated kinase 1)/ICK (intestinal cell kinase) is a highly conserved protein kinase that regulates primary cilia structure and function. CILK1 mutations cause a wide spectrum of human diseases collectively called ciliopathies. While several CILK1 heterozygous variants have bee...

Descripción completa

Detalles Bibliográficos
Autores principales: Salvati, Kathryn A., Mason, Ashley J., Gailey, Casey D., Wang, Eric J., Fu, Zheng, Beenhakker, Mark P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396347/
https://www.ncbi.nlm.nih.gov/pubmed/34445580
http://dx.doi.org/10.3390/ijms22168875