Mechanisms of disease - When cilia go bad: cilia defects and ciliopathies

被引:935
作者
Fliegauf, Manfred
Benzing, Thomas
Omran, Heymut [1 ]
机构
[1] Univ Hosp Freiburg, Dept Paediat & Adolescent Med, D-79106 Freiburg, Germany
[2] Univ Cologne, Dept Med, D-50937 Cologne, Germany
关键词
D O I
10.1038/nrm2278
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Defects in the function of cellular organelles such as peroxisomes, lysosomes and mitochondria are well-known causes of human diseases. Recently, another organelle has also been added to this list. Cilia-tiny hair-like organelles attached to the cell surface-are located on almost all polarized cell types of the human body and have been adapted as versatile tools forvarious cellular functions, explaining why cilia-related disorders can affect many organ systems. Several molecular mechanisms involved in cilia-related disorders have been identified that affect the structure and function of distinct cilia types.
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收藏
页码:880 / 893
页数:14
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共 131 条
[1]   Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells [J].
Adato, A ;
Lefèvre, G ;
Delprat, B ;
Michel, V ;
Michalski, N ;
Chardenoux, S ;
Weil, D ;
El-Amraoui, A ;
Petit, C .
HUMAN MOLECULAR GENETICS, 2005, 14 (24) :3921-3932
[2]   Cilia-related diseases [J].
Afzelius, BA .
JOURNAL OF PATHOLOGY, 2004, 204 (04) :470-477
[3]   Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner [J].
Astrinidis, A ;
Senapedis, W ;
Henske, EP .
HUMAN MOLECULAR GENETICS, 2006, 15 (02) :287-297
[4]   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
[5]   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
[6]   Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus [J].
Banizs, B ;
Pike, MM ;
Millican, CL ;
Ferguson, WB ;
Komlosi, P ;
Sheetz, J ;
Bell, PD ;
Schwiebert, EM ;
Yoder, BK .
DEVELOPMENT, 2005, 132 (23) :5329-5339
[7]   Lifting the lid on Pandora's box: the Bardet-Biedl syndrome [J].
Beales, PL .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2005, 15 (03) :315-323
[8]   Cilium-generated signaling: a cellular GPS? [J].
Benzing, Thomas ;
Walz, Gerd .
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION, 2006, 15 (03) :245-249
[9]   PKD1 induces p21waf1 and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2 [J].
Bhunia, AK ;
Piontek, K ;
Boletta, A ;
Liu, LJ ;
Qian, F ;
Xu, PN ;
Germino, FJ ;
Germino, GG .
CELL, 2002, 109 (02) :157-168
[10]   USHER SYNDROME TYPE-I ASSOCIATED WITH BRONCHIECTASIS AND IMMOTILE NASAL CILIA IN 2 BROTHERS [J].
BONNEAU, D ;
RAYMOND, F ;
KREMER, C ;
KLOSSEK, JM ;
KAPLAN, J ;
PATTE, F .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (03) :253-254