Joubert Syndrome Press Releases
NIH scientists take totally tubular journey through brain cells
Wednesday, Jun 11, 2014
In a new study, scientists at the National Institutes of Health took a molecular-level journey into microtubules, the hollow cylinders inside brain cells that act as skeletons and internal highways. They watched how a protein called tubulin acetyltransferase (TAT) labels the inside of microtubules. The results, published in Cell, answer long-standing questions about how TAT tagging works and offer clues as to why it is important for brain health.
Cilia Malfunction Disrupts Brain Development: Study Helps Explain Joubert Syndrome, Other Disorders
Friday, Nov 16, 2007
What goes wrong in developmental brain disorders? Recent genetic studies have suggested a surprising culprit in some of these disorders: abnormalities in hairlike structures called cilia on the surfaces of cells. A new study shows that proteins associated with cilia are essential for normal development of the brain’s cerebellum. The finding helps to explain a diverse and puzzling group of developmental disorders.
Researchers Identify Joubert Syndrome Genes
Monday, Feb 7, 2005
Researchers have identified the genes for two different forms of Joubert syndrome, a rare developmental disorder that causes coordination and movement problems and mental retardation in children. The findings allow genetic testing for some forms of the disorder and provide valuable insights about how the human brain develops.