Highlight: Researchers uncover new data about Arl13b function in Joubert syndrome

Mar 15, 2010

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 .

Although Arl13b—which is required for cilium biogenesis and embryo development—is known to be mutated in patients with JS, the specific cilial and 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.

Explore further: Gene mutation discovered in blood disorder

More information: Cevik, S., et al. 2010. J. Cell Biol. doi:10.1083/jcb.200908133

add to favorites email to friend print save as pdf

Related Stories

Diffusion of a soluble protein through a sensory cilium

Feb 22, 2010

A team of researchers led by Peter Calvert (SUNY Upstate Medical University) has, for the first time, measured the diffusion coefficient of a protein in a primary cilium and in other major compartments of ...

Research team enlightens the reasons for severe blindness

Aug 06, 2007

People suffering from a severe retinal disease will sooner or later lose their eyesight considerably or even become completely blind. Those affected, family members, researchers and doctors hope that this fate might be avoided ...

A common thread links multiple human cognitive disorders

Feb 15, 2010

A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome ...

Researchers develop mouse model for muscle disease

Sep 05, 2006

Researchers from the University of Minnesota have identified the importance of a gene critical to normal muscle function, resulting in a new mouse model for a poorly understood muscle disease in humans.

Recommended for you

Infant cooing, babbling linked to hearing ability

7 hours ago

Infants' vocalizations throughout the first year follow a set of predictable steps from crying and cooing to forming syllables and first words. However, previous research had not addressed how the amount ...

Developing 'tissue chip' to screen neurological toxins

8 hours ago

A multidisciplinary team at the University of Wisconsin-Madison and the Morgridge Institute for Research is creating a faster, more affordable way to screen for neural toxins, helping flag chemicals that ...

Gene mutation discovered in blood disorder

12 hours ago

An international team of scientists has identified a gene mutation that causes aplastic anemia, a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells. Studying a family in which ...

Airway muscle-on-a-chip mimics asthma

14 hours ago

The majority of drugs used to treat asthma today are the same ones that were used 50 years ago. New drugs are urgently needed to treat this chronic respiratory disease, which causes nearly 25 million people ...

User comments : 0