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Researchers uncover new data about protein function in Joubert syndrome

Date:
March 16, 2010
Source:
Rockefeller University Press
Summary:
Researchers in Ireland have gained new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS), a rare disorder characterized by developmental delay, mental retardation, and low muscle tone, among other symptoms.
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Researchers in Ireland have gained new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS), a rare disorder characterized by developmental delay, mental retardation, and low muscle tone, among other symptoms.

The findings will be published online March 15 in the Journal of Cell Biology.

Although Arl13b -- which is required for cilium biogenesis and embryo development -- is known to be mutated in patients with JS, the specific cilial and molecular basis of Arl13b function has been poorly understood. Oliver Blacque and colleagues (University College Dublin) used C. elegans and mammalian cell culture systems to investigate Arl13b function.

Their findings show that JS-associated Arl13b works at ciliary membranes, where it regulates ciliary transmembrane protein localization and transport of proteins to the tip of the cilium.


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The above post is reprinted from materials provided by Rockefeller University Press. Note: Materials may be edited for content and length.


Journal Reference:

  1. Cevik, S., et al. Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. Journal of Cell Biology, 2010; DOI: 10.1083/jcb.200908133

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Rockefeller University Press. "Researchers uncover new data about protein function in Joubert syndrome." ScienceDaily. ScienceDaily, 16 March 2010. <www.sciencedaily.com/releases/2010/03/100315103816.htm>.
Rockefeller University Press. (2010, March 16). Researchers uncover new data about protein function in Joubert syndrome. ScienceDaily. Retrieved July 4, 2015 from www.sciencedaily.com/releases/2010/03/100315103816.htm
Rockefeller University Press. "Researchers uncover new data about protein function in Joubert syndrome." ScienceDaily. www.sciencedaily.com/releases/2010/03/100315103816.htm (accessed July 4, 2015).

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