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J Cell Biol. 2008 Jan 14;180(1):17-21. doi: 10.1083/jcb.200710085. Epub 2008 Jan 7.

The cell biological basis of ciliary disease.

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  • 1Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94143, USA.


Defects in cilia cause a broad spectrum of human diseases known collectively as the ciliopathies. Although all ciliopathies arise from defective cilia, the range of symptoms can vary significantly, and only a small subset of the possible ciliary disease symptoms may be present in any given syndrome. This complexity is puzzling until one realizes that the cilia are themselves exceedingly complex machines that perform multiple functions simultaneously, such that breaking one piece of the machine can leave some functions intact while destroying others. The clinical complexity of the ciliopathies can therefore only be understood in light of the basic cell biology of the cilia themselves, which I will discuss from the viewpoint of cell biological studies in model organisms.

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