Calcium/Calmodulin-Dependent Serine Protein Kinase and Mental Retardation
Calcium/Calmodulin-Dependent Serine Protein Kinase and Mental Retardation
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DOI：
10.1002/ana.21755
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发表时间：
2009-10-01
影响因子：
11.2
通讯作者：
Hsueh, Yi-Ping
中科院分区：
文献类型：
--
作者：
Hsueh, Yi-Ping
钙/钙调素依赖性丝氨酸蛋白激酶（CASK）属于膜相关鸟苷酸激酶蛋白家族。该蛋白质家族的成员作为最初在细胞连接和突触处鉴定的多结构域衔接蛋白发挥功能。小鼠中CASK基因的插入突变或靶向破坏导致新生儿死亡，表明CASK在发育中的重要作用。最近，一些报道也表明，人类CASK基因突变导致X连锁脑畸形和智力低下。在分子水平上，许多研究表明CASK对突触前和突触后连接处的突触形成以及基因表达的调节至关重要。CASK的已知分子功能至少部分地解释了患者的智力迟钝和脑发育缺陷。本文对CASK的研究进展进行了综述和讨论。
Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK gene in mice results in neonatal lethality, indicating an important role for CASK in development. Recently, several reports have also indicated that mutations in the human CASK gene result in X-linked malformations of the brain and mental retardation. At the molecular level, many studies indicate that CASK is critical for synapse formation at both presynaptic and postsynaptic junctions, and in the regulation of gene expression. The known molecular functions of CASK explain, at least partially, mental retardation and brain developmental defects in patients. In this review, recent findings about CASK are summarized and discussed.