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
Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
Mori T et al.
Genes, 2023
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
Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia.
Xie G et al.
Frontiers in Genetics, 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
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Mukherjee K et al.
Molecular Genetics & Genomic Medicine, 2020
Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia.
Kerr A et al.
Investigative Ophthalmology & Visual Science, 2019
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
LaConte LEW et al.
American Journal of Medical Genetics. Part A, 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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