Article
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
PLoS genetics - 1 Oct 2015
Bachmann-Gagescu Ruxandra, Dona Margo, Hetterschijt Lisette, Tonnaer Edith, Peters Theo, de Vrieze Erik, Mans Dorus A, van Beersum Sylvia E C, Phelps Ian G, Arts Heleen H, Keunen Jan E, Ueffing Marius, Roepman Ronald, Boldt Karsten, Doherty Dan, Moens Cecilia B, Neuhauss Stephan C F, Kremer Hannie, van Wijk Erwin
Abstract excerpt
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and channels in the ciliary membrane, which is achieved by complex trafficking mechanisms, in part controlled by the small GTPase RAB8, and by sorting at the transition zone...
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