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Journal of Lipid Research, Vol. 50, S249-S254, April 2009
Phosphoinositide phosphatases and disease
* Division of Hematology, Washington University School of Medicine, Box 8125, St. Louis, MO 63110 This work is supported by funds from the Howard Hughes Medical Institute (J.D.Y.), and from the National Institutes of Health HL-55672 (J.D.Y.) and HL-016634 (P.W.M.) Published, JLR Papers in Press, November 11, 2008.
1 To whom correspondence should be addressed. e-mail: phil{at}dom.wustl.edu (P.W.M.); yorkj{at}duke.edu (J.D.Y.)
The field of inositol signaling has expanded greatly in recent years. Given the many reviews on phosphoinositide kinases, we have chosen to restrict our discussion to inositol lipid hydrolysis focused on the phosphatases and a brief mention of the lipase isoforms. We also discuss recent discoveries that link mutations in phosphoinositide phosphatases to disease.
Supplementary key words membrane trafficking lipid code kinase myotubularin Lowe syndrome Charcot-Marie-Tooth disease Jobert syndrome Abbreviations: DAG, diacylglycerol; ER, endoplasmic reticulum; ESCRT, endosomal sorting complex required for transport; GFP, green fluorescent protein; ING2, inhibitor of growth protein-2; MTM, myotubularin; MTMR, myotubularin-related protein; 3PAP, 3-ptase adaptor protein; PHD, plant homeodomain; PIP, phosphoinositide; PLC, phospholipase C; 5-ptase, 5-phosphatase
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