Mutations in phosphoinositide metabolizing enzymes and human disease.
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.
McCrea
Heather J
HJ
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.
De Camilli
Pietro
P
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
D010716:Phosphatidylinositols; D010770:Phosphotransferases; D010744:Phosphoric Monoester Hydrolases; D000072181:Inositol Polyphosphate 5-Phosphatases