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- W4311391290 endingPage "54" @default.
- W4311391290 startingPage "54" @default.
- W4311391290 abstract "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." @default.
- W4311391290 created "2022-12-26" @default.
- W4311391290 creator A5038283328 @default.
- W4311391290 creator A5074012677 @default.
- W4311391290 creator A5079691093 @default.
- W4311391290 date "2022-12-13" @default.
- W4311391290 modified "2023-10-16" @default.
- W4311391290 title "Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies" @default.
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