title: The role of primary cilia in neuronal function.
abstract: The "ciliopathies" are a newly defined group of disorders characterized by defects in the structure or function of the cellular primary cilium. Patients with these disorders display variably expressive fibrocystic renal disease, retinal blindness, polydactyly, obesity, and brain dysgenesis as well as neurocognitive impairments. Joubert syndrome is a ciliopathy defined by cerebellar vermis hypoplasia, oculomotor apraxia, intermittent hyperventilation, and mental retardation. Recent evidence suggests important roles for the primary cilium in mediating a host of extracellular signaling events such as morphogen, mitogen, homeostatic and polarity signals. Based upon the clinical features of ciliopathies and cilia mediated signaling pathways, the data support a role for the primary cilium in modulating neurogenesis, cell polarity, axonal guidance and possibly adult neuronal function.
authors.affiliation: Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA 92093-0665, USA.
authors.forename: Jeong Ho
authors.initials: JH
authors.lastname: Lee
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D000818:Animals; D001921:Brain / Q000002:abnormalities*; D002465:Cell Movement / Q000502:physiology; D002923:Cilia / Q000502:physiology*; D003071:Cognition / Q000502:physiology; D006801:Humans; D009123:Muscle Hypotonia / Q000235:genetics; D055495:Neurogenesis / Q000502:physiology; D009474:Neurons / Q000502:physiology*; D015398:Signal Transduction / Q000235:genetics