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

被引：918

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

来源：

NATURE REVIEWS MOLECULAR CELL BIOLOGY | 2007年 / 8卷 / 11期

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.

引用

页码：880 / 893

页数：14

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
Adato, A
Lefèvre, G
Delprat, B
Michel, V
Michalski, N
Chardenoux, S
Weil, D
El-Amraoui, A
Petit, C
[J]. HUMAN MOLECULAR GENETICS, 2005, 14 (24) : 3921 - 3932
[2] Cilia-related diseases
Afzelius, BA
[J]. 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
Astrinidis, A
Senapedis, W
Henske, EP
[J]. HUMAN MOLECULAR GENETICS, 2006, 15 (02) : 287 - 297
[4] Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis
Avidor-Reiss, T
Maer, AM
Koundakjian, E
Polyanovsky, A
Keil, T
Subramaniam, S
Zuker, CS
[J]. CELL, 2004, 117 (04) : 527 - 539
[5] The ciliopathies: An emerging class of human genetic disorders
Badano, Jose L.
Mitsuma, Norimasa
Beales, Phil L.
Katsanis, Nicholas
[J]. 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
Banizs, B
Pike, MM
Millican, CL
Ferguson, WB
Komlosi, P
Sheetz, J
Bell, PD
Schwiebert, EM
Yoder, BK
[J]. DEVELOPMENT, 2005, 132 (23): : 5329 - 5339
[7] Lifting the lid on Pandora's box: the Bardet-Biedl syndrome
Beales, PL
[J]. CURRENT OPINION IN GENETICS & DEVELOPMENT, 2005, 15 (03) : 315 - 323
[8] Cilium-generated signaling: a cellular GPS?
Benzing, Thomas
Walz, Gerd
[J]. 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
Bhunia, AK
Piontek, K
Boletta, A
Liu, LJ
Qian, F
Xu, PN
Germino, FJ
Germino, GG
[J]. CELL, 2002, 109 (02) : 157 - 168
[10] USHER SYNDROME TYPE-I ASSOCIATED WITH BRONCHIECTASIS AND IMMOTILE NASAL CILIA IN 2 BROTHERS
BONNEAU, D
RAYMOND, F
KREMER, C
KLOSSEK, JM
KAPLAN, J
PATTE, F
[J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (03) : 253 - 254

← 1 2 3 4 5 6 7 8 9 10 →