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Article

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

Cells - 18 Apr 2023

Guo Qi, Kouyama-Suzuki Emi, Shirai Yoshinori, Cao Xueshan, Yanagawa Toru, Mori Takuma, Tabuchi Katsuhiko

Abstract excerpt

Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a neurodevelopmental disorder caused by the deficiency of the X-chromosomal gene CASK. However, the molecular mechanisms by which CASK deficiency causes cerebellar hypoplasia in this syndrome remain elusive. In this study, we used CASK knockout (KO) mice as models for MICPCH syndrome and investigated the effect of CASK mutants. Female CASK...

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Identifiers

PMID: 37190086
DOI: 10.3390/cells12081177
PMCID: PMC10136522

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Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.PMID 37190086Read ↗

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

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domainSemantic proximity Read ↗

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.Semantic proximity Read ↗

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.Semantic proximity Read ↗

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

JNK Inhibitor Suppresses CASK Deficiency-Induced Cerebellar Granular Cell Death in MICPCH Syndrome Model MiceSemantic proximity Read ↗

Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.Semantic proximity Read ↗

A Novel Loss-of-function Pathogenic Missense Mutation in CASK Gene Causes Mental Retardation and Microcephaly with Pontine and Cerebellar HypoplasiaSemantic proximity Read ↗

Loss of Neurodevelopmental Gene <i>CASK</i> Disrupts Neural Connectivity in Human Cortical Excitatory NeuronsSemantic proximity Read ↗

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

Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.Semantic proximity Read ↗

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Semantic proximity Read ↗

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