When cilia go bad: cilia defects and ciliopathies

Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93. doi: 10.1038/nrm2278.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Body Patterning
  • Cilia / metabolism
  • Cilia / pathology*
  • Ciliary Motility Disorders / pathology*
  • Cysts / pathology
  • Humans
  • Organ Specificity
  • Reproduction