Mutations in Phosphoinositide Metabolizing Enzymes and Human Disease

被引：145

作者：

McCrea, Heather J. ^{[1
]}

De Camilli, Pietro

机构：

[1] Yale Univ, Sch Med, Howard Hughes Med Inst, Dept Cell Biol,Kavli Inst Neurosci,Program Cellul, New Haven, CT 06510 USA

来源：

PHYSIOLOGY | 2009年 / 24卷 / 01期

基金：

美国国家卫生研究院;

关键词：

SYNDROME PROTEIN OCRL1; LOWE OCULOCEREBRORENAL SYNDROME; POSSIBLE CANDIDATE GENE; MARIE-TOOTH-DISEASE; TRANS-GOLGI NETWORK; TUMOR SUPPRESSION; BIPOLAR-DISORDER; PHOSPHATE KINASE; HUMAN CANCER; PHOSPHATIDYLINOSITOL 3,5-BISPHOSPHATE;

D O I：

10.1152/physiol.00035.2008

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

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.

引用

页码：8 / 16

页数：9

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