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Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93.

When cilia go bad: cilia defects and ciliopathies.

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Department of Paediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany.

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  • Nat Rev Mol Cell Biol. 2008 Jan;9(1):88.


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.

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