期刊
FEBS LETTERS
卷 586, 期 18, 页码 2846-2857出版社
WILEY
DOI: 10.1016/j.febslet.2012.07.037
关键词
Phosphoinositide signalling; Cilia; Ciliopathy syndrome; Inositol polyphosphate 5-phosphatase; Trafficking
Phosphoinositides regulate numerous cellular events via the recruitment and activation of multiple lipid-binding effector proteins. The precise temporal and spatial regulation of phosphoinositide signals by the co-ordinated activities of phosphoinositide kinases and phosphatases is essential for homeostasis and development. Mutations in two inositol polyphosphate 5-phosphatases, INPP5E and OCRL, cause the cerebrorenal syndromes of Joubert and Lowe's, respectively. INPP5E and OCRL exhibit overlapping phosphoinositide substrate specificity and subcellular localisation, including an association with the primary cilia. Here, we review recent studies that identify a new role for these enzymes in the regulation of primary cilia function. Joubert syndrome has been extensively linked to primary cilia defects, and Lowe's may represent a new class of 'ciliopathy associated' syndromes. (C) 2012 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.
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