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

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 u...

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Detalles Bibliográficos
Autores principales: Guo, Qi, Kouyama-Suzuki, Emi, Shirai, Yoshinori, Cao, Xueshan, Yanagawa, Toru, Mori, Takuma, Tabuchi, Katsuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136522/
https://www.ncbi.nlm.nih.gov/pubmed/37190086
http://dx.doi.org/10.3390/cells12081177