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Nature Reviews Molecular Cell Biology 8, 880–893 (1 November 2007) | doi:10.1038/nrm2278

When cilia go bad: cilia defects and ciliopathies

Manfred Fliegauf , Thomas Benzing & Heymut Omran

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 for various 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.