Centrosomes and cilia in human disease

Bettencourt-Dias, Mónica; Hildebrandt, Friedhelm; Pellman, David; Woods, Geoff; Godinho, Susana A.

http://hdl.handle.net/10400.7/836

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Authors

Bettencourt-Dias, Mónica

Hildebrandt, Friedhelm

Pellman, David

Woods, Geoff

Godinho, Susana A.

Abstract(s)

Centrioles are microtubule-derived structures that are essential for the formation of centrosomes, cilia and flagella. The centrosome is the major microtubule organiser in animal cells, participating in a variety of processes, from cell polarisation to cell division, whereas cilia and flagella contribute to several mechanisms in eukaryotic cells, from motility to sensing. Although it was suggested more than a century ago that these microtubule-derived structures are involved in human disease, the molecular bases of this association have only recently been discovered. Surprisingly, there is very little overlap between the genes affected in the different diseases, suggesting that there are tissue-specific requirements for these microtubule-derived structures. Knowledge of these requirements and disease mechanisms has opened new avenues for therapeutical strategies. Here, we give an overview of recent developments in this field, focusing on cancer, diseases of brain development and ciliopathies.

Description

The deposited article is a post-print version (NIH-PA Author Manuscript) and has been submitted to peer review.
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Keywords

Aneuploidy Cell Division Centrosome Chromosomal Instability Cilia Humans Kidney Diseases, Cystic Microcephaly Mutation Neoplasms Signal Transduction Spindle Apparatus

URI

http://hdl.handle.net/10400.7/836

Citation

Mónica Bettencourt-Dias, Friedhelm Hildebrandt, David Pellman, Geoff Woods, Susana A. Godinho, Centrosomes and cilia in human disease, Trends in Genetics, Volume 27, Issue 8, 2011, Pages 307-315, ISSN 0168-9525, https://doi.org/10.1016/j.tig.2011.05.004. (http://www.sciencedirect.com/science/article/pii/S0168952511000655)