The role of primary cilia in neuronal function
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 a...
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doaj-988fa3b553a948ab926f0e13834a77972021-03-20T04:58:53ZengElsevierNeurobiology of Disease1095-953X2010-05-01382167172The role of primary cilia in neuronal functionJeong Ho Lee0Joseph G. Gleeson1Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA, USACorresponding author. Department of Neurosciences/HHMI, University of California San Diego, 9500 Gilman Dr., Leichtag Bldg. 482, La Jolla, CA 92093-0665, USA. Fax: +1 858 246 0436.; Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA, USAThe “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.http://www.sciencedirect.com/science/article/pii/S0969996109003775CiliopathyJoubert syndromeNeuronal functionPrimary cilia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jeong Ho Lee Joseph G. Gleeson |
spellingShingle |
Jeong Ho Lee Joseph G. Gleeson The role of primary cilia in neuronal function Neurobiology of Disease Ciliopathy Joubert syndrome Neuronal function Primary cilia |
author_facet |
Jeong Ho Lee Joseph G. Gleeson |
author_sort |
Jeong Ho Lee |
title |
The role of primary cilia in neuronal function |
title_short |
The role of primary cilia in neuronal function |
title_full |
The role of primary cilia in neuronal function |
title_fullStr |
The role of primary cilia in neuronal function |
title_full_unstemmed |
The role of primary cilia in neuronal function |
title_sort |
role of primary cilia in neuronal function |
publisher |
Elsevier |
series |
Neurobiology of Disease |
issn |
1095-953X |
publishDate |
2010-05-01 |
description |
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. |
topic |
Ciliopathy Joubert syndrome Neuronal function Primary cilia |
url |
http://www.sciencedirect.com/science/article/pii/S0969996109003775 |
work_keys_str_mv |
AT jeongholee theroleofprimaryciliainneuronalfunction AT josephggleeson theroleofprimaryciliainneuronalfunction AT jeongholee roleofprimaryciliainneuronalfunction AT josephggleeson roleofprimaryciliainneuronalfunction |
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1724211588672520192 |