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PMID: 19196647 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Mutations in phosphoinositide metabolizing enzymes and human disease.

Physiology (Bethesda, Md.) ·Vol. 24 ·2009-02-00 ·Pages 8-16

McCrea HJ, De Camilli P

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.

MeSH Terms
Animals Disease/etiology,genetics Humans Inositol Polyphosphate 5-Phosphatases Mutation Oculocerebrorenal Syndrome/etiology,genetics Phosphatidylinositols/metabolism Phosphoric Monoester Hydrolases/genetics,metabolism Phosphotransferases/genetics,metabolism
Chemicals
Phosphatidylinositols Phosphotransferases Phosphoric Monoester Hydrolases Inositol Polyphosphate 5-Phosphatases
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
McCrea Heather J
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
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Article Info
Journal
Physiology (Bethesda, Md.)
Abbr.
Physiology (Bethesda)
ISSN
1548-9213
DOI
10.1152/physiol.00035.2008
Published
2009-02-00
Pages
8-16
Language
English
Region
United States
NLM ID
101208185
PMCID
PMC3499097
Subset
IM
Grants
NIGMS NIH HHS · TG 5T32 GM-07205 · United States
NINDS NIH HHS · NS-36251 · United States
Howard Hughes Medical Institute · United States
NIDA NIH HHS · DA-018343 · United States
NIDA NIH HHS · P30 DA018343 · United States
NINDS NIH HHS · R37 NS036251 · United States
NINDS NIH HHS · R01 NS036251 · United States
NIGMS NIH HHS · T32 GM007205 · United States
External Links
PubMed source DOI: 10.1152/physiol.00035.2008 PMC Full Text View journal details
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