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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Disease / etiology
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Disease / genetics*
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Humans
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Inositol Polyphosphate 5-Phosphatases
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Mutation*
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Oculocerebrorenal Syndrome / etiology
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Oculocerebrorenal Syndrome / genetics
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Phosphatidylinositols / metabolism*
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Phosphoric Monoester Hydrolases / genetics*
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Phosphoric Monoester Hydrolases / metabolism
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Phosphotransferases / genetics*
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Phosphotransferases / metabolism
Substances
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Phosphatidylinositols
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Phosphotransferases
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Phosphoric Monoester Hydrolases
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Inositol Polyphosphate 5-Phosphatases