Elsevier

Genetics in Medicine

Volume 11, Issue 6, June 2009, Pages 386-402
Genetics in Medicine

Review
The nonmotile ciliopathies

https://doi.org/10.1097/GIM.0b013e3181a02882Get rights and content
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Abstract

Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field, including new animal models, the role of ciliopathy proteins in signaling pathways and development, and the unusual genetics of these diseases. We also discuss the therapeutic potential for these diseases and finally, discuss important future work that will extend our understanding of this fascinating organelle and its associated pathologies.

Keywords

ciliopathy
Bardet-Biedl
cilia
nonmotile
genetic disease

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