Article
INPP5E regulates phosphoinositide-dependent cilia transition zone function.
The Journal of cell biology - 2 Jan 2017
Dyson Jennifer M, Conduit Sarah E, Feeney Sandra J, Hakim Sandra, DiTommaso Tia, Fulcher Alex J, Sriratana Absorn, Ramm Georg, Horan Kristy A, Gurung Rajendra, Wicking Carol, Smyth Ian, Mitchell Christina A
Abstract excerpt
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. We report...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
