Featured Research

from universities, journals, and other organizations

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.

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.

Related Articles


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.


Story Source:

The above story is based on 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

Cite This Page:

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 April 18, 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 April 18, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, April 18, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Our Love Of Puppy Dog Eyes Explained By Science

Our Love Of Puppy Dog Eyes Explained By Science

Newsy (Apr. 17, 2015) Researchers found a spike in oxytocin occurs in both humans and dogs when they gaze into each other&apos;s eyes. Video provided by Newsy
Powered by NewsLook.com
Scientists Find Link Between Gestational Diabetes And Autism

Scientists Find Link Between Gestational Diabetes And Autism

Newsy (Apr. 17, 2015) Researchers who analyzed data from over 300,000 kids and their mothers say they&apos;ve found a link between gestational diabetes and autism. Video provided by Newsy
Powered by NewsLook.com
Video Messages Help Reassure Dementia Patients

Video Messages Help Reassure Dementia Patients

AP (Apr. 17, 2015) Family members are prerecording messages as part of a unique pilot program at the Hebrew Home in New York. The videos are trying to help victims of Alzheimer&apos;s disease and other forms of dementia break through the morning fog of forgetfulness. (April 17) Video provided by AP
Powered by NewsLook.com
Boy or Girl? Intersex Awareness Is on the Rise

Boy or Girl? Intersex Awareness Is on the Rise

AP (Apr. 17, 2015) At least 1 in 5,000 U.S. babies are born each year with intersex conditions _ ambiguous genitals because of genetic glitches or hormone problems. Secrecy and surgery are common. But some doctors and activists are trying to change things. (April 17) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins