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Bull."],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Mutations in the cyclin-dependent kinase-like 5 gene (<jats:italic>CDKL5<\/jats:italic>) cause a severe neurodevelopmental disorder, yet the impact of truncating mutations remains unclear. Here, we introduce the <jats:italic>Cdkl5<\/jats:italic>\n            <jats:sup>\n              <jats:italic>492stop<\/jats:italic>\n            <\/jats:sup> mouse model, mimicking C-terminal truncating mutations in patients. 492stop\/Y mice exhibit altered dendritic spine morphology and spontaneous seizure-like behaviors, alongside other behavioral deficits. After creating cell lines with various <jats:italic>Cdkl5<\/jats:italic> truncating mutations, we found that these mutations are regulated by the nonsense-mediated RNA decay pathway. Most truncating mutations result in CDKL5 protein loss, leading to multiple disease phenotypes, and offering new insights into the pathogenesis of CDKL5 disorder.<\/jats:p>","DOI":"10.1007\/s12264-024-01346-4","type":"journal-article","created":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T05:46:35Z","timestamp":1741153595000},"page":"805-820","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations"],"prefix":"10.1007","volume":"41","author":[{"given":"Xue","family":"Feng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zi-Ai","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Tao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui-Wen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji-Wei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Xian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7727-8412","authenticated-orcid":false,"given":"Zhi-Qi","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"1346_CR1","doi-asserted-by":"publisher","first-page":"1149","DOI":"10.1086\/426460","volume":"75","author":"J Tao","year":"2004","unstructured":"Tao J, van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M. 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