Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.
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DOI：
10.3390/jdb10040054
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发表时间：
2022-12-13
影响因子：
2.7
通讯作者：
Sahin, Mustafa
中科院分区：
文献类型：
--
作者：
Karalis, Vasiliki;Donovan, Kathleen E. E.;Sahin, Mustafa
Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues. Several important signaling pathways are regulated through the primary cilium including Sonic Hedgehog (Shh) and Wnt signaling. Therefore, it is no surprise that mutated genes encoding defective proteins that affect primary cilia function or structure are responsible for a group of disorders collectively termed ciliopathies. The severe neurologic abnormalities observed in several ciliopathies have prompted examination of primary cilia structure and function in other brain disorders. Recently, neuronal primary cilia defects were observed in monogenic neurodevelopmental disorders that were not traditionally considered ciliopathies. The molecular mechanisms of how these genetic mutations cause primary cilia defects and how these defects contribute to the neurologic manifestations of these disorders remain poorly understood. In this review we will discuss monogenic neurodevelopmental disorders that exhibit cilia deficits and summarize findings from studies exploring the role of primary cilia in the brain to shed light into how these deficits could contribute to neurologic abnormalities.
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