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Last updated on April 17, 2014 at 21:23 EDT

Latest Intraflagellar transport Stories

2010-09-07 13:07:40

A new study in the September 6 issue of the Journal of Cell Biology (www.jcb.org) 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...

2010-06-25 13:25:23

Nearly all mammalian cells have what's called a primary cilium "” a single, stump-like rod projecting from the smooth contours of the cell's outer membrane. Unlike its more flamboyant cousins, the motile cilia, which beat industriously in packs to clear our airways of mucous or to shuttle a fertilized egg to the uterus, the primary cilium just "¦ sits there. Like a bump on a log. In fact, it looks so useless that, until recently, many scientists considered it to be just a...

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2009-12-28 09:33:28

A protein complex mutated in human disease removes excess signaling molecules to prevent them from damaging cilia, say researchers from UMass Medical School. The study will be published in the December 28 issue of the Journal of Cell Biology. Defective cilia cause a range of diseases including Bardet-Biedl syndrome (BBS), a rare, multi-tissue disorder linked to mutations in 12 different proteins. Seven of these form a complex called the BBSome, but the function of this protein assembly in...

2008-08-20 15:01:11

U.S.-led scientists say they've identified a critical protein complex in the growth of cell cilia that might have a key role in many serious diseases. The team led by the New York University Cancer Institute said the protein complex regulates the formation of primary cilia, which are found on virtually all mature human cells and are essential to normal cell function. The researchers led by Professor Brian Dynlacht, director of the institute's Genomics Facility, said the antenna-like...