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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 heterozygote KO mice replicate the progressive cerebellar hypoplasia observed in MICPCH syndrome. CASK KO cultured cerebellar granule (CG) cells show progressive cell death that can be rescued by co-infection with lentivirus expressing wild-type CASK. Rescue experiments with CASK deletion mutants identify that the CaMK, PDZ, and SH3, but not L27 and guanylate kinase domains of CASK are required for the survival of CG cells. We identify missense mutations in the CaMK domain of CASK derived from human patients that fail to rescue the cell death of cultured CASK KO CG cells. Machine learning-based structural analysis using AlphaFold 2.2 predicts that these mutations disrupt the structure of the binding interface with Liprin-\u03b12. These results suggest that the interaction with Liprin-\u03b12 via the CaMK domain of CASK may be involved in the pathophysiology of cerebellar hypoplasia in MICPCH syndrome.<\/jats:p>","DOI":"10.3390\/cells12081177","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T01:36:45Z","timestamp":1681781805000},"page":"1177","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Structural Analysis Implicates CASK-Liprin-\u03b12 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome"],"prefix":"10.3390","volume":"12","author":[{"given":"Qi","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emi","family":"Kouyama-Suzuki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3263-4986","authenticated-orcid":false,"given":"Yoshinori","family":"Shirai","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueshan","family":"Cao","sequence":"additional","affiliation":[{"name":"College of Life Science and Oceanography, Shenzhen University, Shenzhen 518071, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0868-2563","authenticated-orcid":false,"given":"Toru","family":"Yanagawa","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4195-2804","authenticated-orcid":false,"given":"Takuma","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"},{"name":"Department of NeuroHealth Innovation, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1673-4637","authenticated-orcid":false,"given":"Katsuhiko","family":"Tabuchi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"},{"name":"Department of NeuroHealth Innovation, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2488","DOI":"10.1523\/JNEUROSCI.16-08-02488.1996","article-title":"CASK: A novel dlg\/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins","volume":"16","author":"Hata","year":"1996","journal-title":"J. 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