title: Mutations in phosphoinositide metabolizing enzymes and human disease.
abstract: Phosphoinositides are implicated in the regulation of a wide variety of cellular functions. Their importance in cellular and organismal physiology is underscored by the growing number of human diseases linked to perturbation of kinases and phosphatases that catalyze interconversion from one phosphoinositide to another. Many such enzymes are attractive targets for therapeutic interventions. Here, we review diseases linked to inheritable or somatic mutations of these enzymes.
authors.affiliation: Howard Hughes Medical Institute, Department of Cell Biology, Kavli Institute for Neuroscience, Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University School of Medicine, New Haven, Connecticut, USA.
authors.forename: Heather J
authors.initials: HJ
authors.lastname: McCrea
authors.forename: Pietro
authors.initials: P
authors.lastname: De Camilli
mesh_terms: D000818:Animals; D004194:Disease / Q000209:etiology / Q000235:genetics*; D006801:Humans; D000072181:Inositol Polyphosphate 5-Phosphatases; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000209:etiology / Q000235:genetics; D010716:Phosphatidylinositols / Q000378:metabolism*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics* / Q000378:metabolism; D010770:Phosphotransferases / Q000235:genetics* / Q000378:metabolism
chemical_list: D010716:Phosphatidylinositols; D010770:Phosphotransferases; D010744:Phosphoric Monoester Hydrolases; D000072181:Inositol Polyphosphate 5-Phosphatases