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Article

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

Annals of neurology - 1 Oct 2009

Hsueh Yi-Ping

Abstract excerpt

Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK gene in mice results in neonatal lethality, indicating an important role for CASK in development....

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Source

Identifiers

PMID: 19847910
DOI: 10.1002/ana.21755

Genes

CASK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Calcium/calmodulin-dependent serine protein kinase and mental retardation.PMID 19847910Read ↗

Sex-specific genotype-phenotype landscape and prevalence of <i>CASK</i> -related disorderSemantic proximity Read ↗

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.Semantic proximity Read ↗

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.Semantic proximity Read ↗

Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.Semantic proximity Read ↗

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.Semantic proximity Read ↗

Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.Semantic proximity Read ↗

Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.Semantic proximity Read ↗

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Semantic proximity Read ↗

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.Semantic proximity Read ↗

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.Semantic proximity Read ↗

CASK phosphorylation by PKA regulates the protein-protein interactions of CASK and expression of the NMDAR2b gene.Semantic proximity Read ↗

The cytoplasmic adaptor protein Caskin mediates Lar signal transduction during Drosophila motor axon guidance.Semantic proximity Read ↗

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