When cilia go bad: cilia defects and ciliopathies.
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.
Fliegauf
Manfred
M
Department of Paediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany.
Benzing
Thomas
T
Omran
Heymut
H
D000818:Animals; D019521:Body Patterning; D002923:Cilia / Q000378:metabolism / Q000473:pathology*; D002925:Ciliary Motility Disorders / Q000473:pathology*; D003560:Cysts / Q000473:pathology; D006801:Humans; D009928:Organ Specificity; D012098:Reproduction