The role of primary cilia in neuronal function

被引：95

作者：

Lee, Jeong Ho ^{[1
]}

Gleeson, Joseph G. ^{[1
]}

机构：

[1] Univ Calif San Diego, Dept Neurosci & Pediat, Howard Hughes Med Inst, San Diego, CA 92103 USA

来源：

NEUROBIOLOGY OF DISEASE | 2010年 / 38卷 / 02期

关键词：

Ciliopathy; Joubert syndrome; Neuronal function; Primary cilia; BARDET-BIEDL-SYNDROME; INTRAFLAGELLAR TRANSPORT PROTEINS; POLYCYSTIC KIDNEY-DISEASE; JOUBERT-SYNDROME; SONIC HEDGEHOG; CENTROSOMAL PROTEIN; COUPLED-RECEPTORS; PROGENITOR POOL; CELL POLARITY; C-ELEGANS;

D O I：

10.1016/j.nbd.2009.12.022

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：167 / 172

页数：6

共 66 条

[1] The retinal ciliopathies [J].

Adams, N. A. ;

Awadein, Ahmed ;

Toma, Hassanain S. .

OPHTHALMIC GENETICS, 2007, 28 (03) :113-125

[2] Proteomic characterization of the human centrosome by protein correlation profiling [J].

Andersen, JS ;

Wilkinson, CJ ;

Mayor, T ;

Mortensen, P ;

Nigg, EA ;

Mann, M .

NATURE, 2003, 426 (6966) :570-574

[3] Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis [J].

Avidor-Reiss, T ;

Maer, AM ;

Koundakjian, E ;

Polyanovsky, A ;

Keil, T ;

Subramaniam, S ;

Zuker, CS .

CELL, 2004, 117 (04) :527-539

[4] The ciliopathies: An emerging class of human genetic disorders [J].

Badano, Jose L. ;

Mitsuma, Norimasa ;

Beales, Phil L. ;

Katsanis, Nicholas .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2006, 7 :125-148

[5] Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors [J].

Berbari, Nicolas F. ;

Johnson, Andrew D. ;

Lewis, Jacqueline S. ;

Askwith, Candice C. ;

Mykytyn, Kirk .

MOLECULAR BIOLOGY OF THE CELL, 2008, 19 (04) :1540-1547

[6] Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia [J].

Berbari, Nicolas F. ;

Lewis, Jacqueline S. ;

Bishop, Georgia A. ;

Askwith, Candice C. ;

Mykytyn, Kirk .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (11) :4242-4246

[7] Loss of nephrocystin-3 function can cause embryonic lethality, meckel-gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia [J].

Bergmann, Carsten ;

Fliegauf, Manfred ;

Bruechle, Nadina Ortiz ;

Frank, Valeska ;

Olbrich, Heike ;

Kirschner, Jan ;

Schermer, Bernhard ;

Schmedding, Ingolf ;

Kispert, Andreas ;

Kraenzlin, Bettina ;

Nuernberg, Gudrun ;

Becker, Christian ;

Grimm, Tiemo ;

Girschick, Gundula ;

Lynch, Sally A. ;

Kelehan, Peter ;

Senderek, Jan ;

Neuhaus, Thomas J. ;

Stallmach, Thomas ;

Zentgraf, Hanswalter ;

Nuernberg, Peter ;

Gretz, Norbert ;

Lo, Cecilia ;

Lienkamp, Soeren ;

Schaefer, Tobias ;

Walz, Gerd ;

Benzing, Thomas ;

Zerres, Klaus ;

Omran, Heymut .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) :959-970

[8] Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies [J].

Bielas, Stephanie L. ;

Silhavy, Jennifer L. ;

Brancati, Francesco ;

Kisseleva, Marina V. ;

Al-Gazali, Lihadh ;

Laszlo Sztriha ;

Bayoumi, Riad A. ;

Zaki, Maha S. ;

Abdel-Aleem, Alice ;

Rosti, Rasim Ozgur ;

Kayserili, Hulya ;

Swistun, Dominika ;

Scott, Lesley C. ;

Bertini, Enrico ;

Boltshauser, Eugen ;

Fazzi, Elisa ;

Travaglini, Lorena ;

Field, Seth J. ;

Gayral, Stephanie ;

Jacoby, Monique ;

Schurmans, Stephane ;

Dallapiccola, Bruno ;

Majerus, Philip W. ;

Valente, Enza Maria ;

Gleeson, Joseph G. .

NATURE GENETICS, 2009, 41 (09) :1032-U108

[9] Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain [J].

Bishop, Georgia A. ;

Berbari, Nicolas F. ;

Lewis, Jacqueline ;

Mykytyn, Kirk .

JOURNAL OF COMPARATIVE NEUROLOGY, 2007, 505 (05) :562-571

[10] Functional genomics of the cilium, a sensory organelle [J].

Blacque, OE ;

Perens, EA ;

Boroevich, KA ;

Inglis, PN ;

Li, CM ;

Warner, A ;

Khattra, J ;

Holt, RA ;

Ou, GS ;

Mah, AK ;

McKay, SJ ;

Huang, P ;

Swoboda, P ;

Jones, SJM ;

Marra, MA ;

Baillie, DL ;

Moerman, DG ;

Shaham, S ;

Leroux, MR .

CURRENT BIOLOGY, 2005, 15 (10) :935-941

← 1 2 3 4 5 6 7 →