Associated Papers
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
Patel PA et al.
Journal of Medical Genetics, 2024
Interrogation and validation of the interactome of neuronal Munc18-interacting Mint proteins with AlphaFold2.
Weeratunga S et al.
The Journal of Biological Chemistry, 2024
Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.
Guo Q et al.
Cells, 2023
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.
Tibbe D et al.
Life Science Alliance, 2022
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
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Mukherjee K et al.
Molecular Genetics & Genomic Medicine, 2020
Structural Basis for the High-Affinity Interaction between CASK and Mint1.
Wu X et al.
Structure (london, England : 1993), 2020
Comments on: A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.
Studtmann C et al.
American Journal of Medical Genetics. Part A, 2019
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
Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F et al.
Human Mutation, 2018
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