Journal
NEUROBIOLOGY OF DISEASE
Volume 38, Issue 2, Pages 167-172Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.nbd.2009.12.022
Keywords
Ciliopathy; Joubert syndrome; Neuronal function; Primary cilia
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Funding
- National Institute of Neurological Diseases and Stroke [NS048453, NS052455]
- Burroughs Wellcome Fund
- Howard Hughes Medical Institute
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS052455, R01NS048453] Funding Source: NIH RePORTER
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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. (C) 2009 Elsevier Inc. All rights reserved.
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