Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.

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 neurodev

SUBMITTER: Karalis V 

PROVIDER: S-EPMC9782889 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature