Featured Research

from universities, journals, and other organizations

Researchers define role of CEP290 in maintaining ciliary function

Date:
September 6, 2010
Source:
Rockefeller University Press
Summary:
Researchers helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases.

A new study in the September 6 issue of the Journal of Cell Biology helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases.

Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death. CEP290 mutations are known to cause Meckel syndrome, Joubert syndrome, and NPHP -- the most common syndromic form of cystic kidney disease in childhood -- among others.

Although the exact role of CEP290 has been unclear, a team of researchers from the University of Massachusetts Medical School and Yale University now demonstrate that CEP290 is an integral component of the ciliary "gate" that bridges the transition zone between the cilia and cytoplasm. The protein plays an important role in maintaining the structural integrity of this gate, and thus has a crucial role in maintaining ciliary function.


Story Source:

The above story is based on materials provided by Rockefeller University Press. Note: Materials may be edited for content and length.


Journal References:

  1. Branch Craige, Che-Chia Tsao, Dennis R. Diener, Yuqing Hou, Karl-Ferdinand Lechtreck, Joel L. Rosenbaum, and George B. Witman. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. The Journal of Cell Biology, 2010; 190 (5): 927 DOI: 10.1083/jcb.201006105
  2. Omran et al. NPHP proteins: gatekeepers of the ciliary compartment. The Journal of Cell Biology, 2010; 190 (5): 715 DOI: 10.1083/jcb.201008080

Cite This Page:

Rockefeller University Press. "Researchers define role of CEP290 in maintaining ciliary function." ScienceDaily. ScienceDaily, 6 September 2010. <www.sciencedaily.com/releases/2010/09/100906141212.htm>.
Rockefeller University Press. (2010, September 6). Researchers define role of CEP290 in maintaining ciliary function. ScienceDaily. Retrieved September 1, 2014 from www.sciencedaily.com/releases/2010/09/100906141212.htm
Rockefeller University Press. "Researchers define role of CEP290 in maintaining ciliary function." ScienceDaily. www.sciencedaily.com/releases/2010/09/100906141212.htm (accessed September 1, 2014).

Share This




More Plants & Animals News

Monday, September 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Washington Wildlife Center Goes Nuts Over Baby Squirrels

Washington Wildlife Center Goes Nuts Over Baby Squirrels

Reuters - US Online Video (Aug. 30, 2014) An animal rescue in Washington state receives an influx of orphaned squirrels, keeping workers busy as they nurse them back to health. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com
Experimental Ebola Drug ZMapp Cures Lab Monkeys Of Disease

Experimental Ebola Drug ZMapp Cures Lab Monkeys Of Disease

Newsy (Aug. 29, 2014) In a new study, a promising experimental treatment for Ebola managed to cure a group of infected macaque monkeys. Video provided by Newsy
Powered by NewsLook.com
Killer Amoeba Found in Louisiana Water System

Killer Amoeba Found in Louisiana Water System

AP (Aug. 28, 2014) State health officials say testing has confirmed the presence of a killer amoeba in a water system serving three St. John the Baptist Parish towns. (Aug. 28) 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:
from the past week

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