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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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Wedi'i Gadw mewn:
Prif Awduron: Qi Guo, Emi Kouyama-Suzuki, Yoshinori Shirai, Xueshan Cao, Toru Yanagawa, Takuma Mori, Katsuhiko Tabuchi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI AG 2023-04-01
Cyfres:Cells
Pynciau:
MICPCH syndrome
CASK
Liprin-α2
cerebellar granule cells
CaMK domain
Mynediad Ar-lein:https://www.mdpi.com/2073-4409/12/8/1177
Tagiau: Ychwanegu Tag
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