Associated Papers
Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.
Tibbe D et al.
Journal of Neurochemistry, 2025
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
Patel PA et al.
Journal of Medical Genetics, 2024
Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.
Guo Q et al.
Cells, 2023
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Dubbs H et al.
American Journal of Medical Genetics. Part A, 2022
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Zhang Y et al.
Italian Journal of Pediatrics, 2022
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Pan YE et al.
Journal of Neurochemistry, 2021
Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia.
Kerr A et al.
Investigative Ophthalmology & Visual Science, 2019
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW et al.
Human Genetics, 2018
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