Article
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Nature genetics - 1 Sept 2009
Jacoby Monique, Cox James J, Gayral Stéphanie, Hampshire Daniel J, Ayub Mohammed, Blockmans Marianne, Pernot Eileen, Kisseleva Marina V, Compère Philippe, Schiffmann Serge N, Gergely Fanni, Riley John H, Pérez-Morga David, Woods C Geoffrey, Schurmans Stéphane
Abstract excerpt
The primary cilium is an antenna-like structure that protrudes from the cell surface of quiescent/differentiated cells and participates in extracellular signal processing. Here, we report that mice deficient for the lipid 5-phosphatase Inpp5e develop a multiorgan disorder associated with structural defects of the primary cilium. In ciliated mouse embryonic fibroblasts, Inpp5e is concentrated in the axoneme of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.