The role of primary cilia in neuronal function

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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.
Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
Issue Date
2010-05
Language
English
Article Type
Review
Keywords

BARDET-BIEDL-SYNDROME; INTRAFLAGELLAR TRANSPORT PROTEINS; POLYCYSTIC KIDNEY-DISEASE; JOUBERT-SYNDROME; SONIC HEDGEHOG; CENTROSOMAL PROTEIN; COUPLED-RECEPTORS; PROGENITOR POOL; CELL POLARITY; C-ELEGANS

Citation

NEUROBIOLOGY OF DISEASE, v.38, pp.167 - 172

ISSN
0969-9961
DOI
10.1016/j.nbd.2009.12.022
URI
http://hdl.handle.net/10203/104322
Appears in Collection
MSE-Journal Papers(저널논문)
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