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Article

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

Journal of neurochemistry - 1 Dec 2025

Tibbe Debora, Hönck Hans-Hinrich, Bhatia Neha, Truong Tina, Proskauer Lydia, Ortiz-Gonzalez Xilma, Maguire Jean Ann, Pak ChangHui, Kreienkamp Hans-Jürgen

Abstract excerpt

Genetic variants in the X-chromosomal gene coding for the calcium-/calmodulin-dependent serine protein kinase (CASK) are associated with a neurodevelopmental disorder. CASK is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. It acts as a scaffold at presynaptic sites, as a regulator of the transport of glutamate receptors, and as a transcriptional regulator. The PDZ domain of CASK...

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Share to CNTNAP2 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41321276
DOI: 10.1111/jnc.70303
PMCID: PMC12666738

Genes

CASK
GK
CNTNAP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.PMID 41321276Read ↗

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