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Literature DB >> 19196647

Mutations in phosphoinositide metabolizing enzymes and human disease.

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.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2009 PMID： 19196647 PMCID： PMC3499097 DOI： 10.1152/physiol.00035.2008

Source DB: PubMed Journal: Physiology (Bethesda) ISSN： 1548-9221

112 in total

1. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.

Authors: M A Dressman; I M Olivos-Glander; R L Nussbaum; S F Suchy
Journal: J Histochem Cytochem Date: 2000-02 Impact factor: 2.479

2. Impact of transgenic overexpression of SH2-containing inositol 5'-phosphatase 2 on glucose metabolism and insulin signaling in mice.

Authors: Syota Kagawa; Yoshiyuki Soeda; Hajime Ishihara; Takeshi Oya; Masakiyo Sasahara; Saori Yaguchi; Ryo Oshita; Tsutomu Wada; Hiroshi Tsuneki; Toshiyasu Sasaoka
Journal: Endocrinology Date: 2007-11-26 Impact factor: 4.736

3. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

Authors: Kai S Erdmann; Yuxin Mao; Heather J McCrea; Roberto Zoncu; Sangyoon Lee; Summer Paradise; Jan Modregger; Daniel Biemesderfer; Derek Toomre; Pietro De Camilli
Journal: Dev Cell Date: 2007-09 Impact factor: 12.270

Review 4. Nuclear phospholipase C beta1 and cellular differentiation.

Authors: Irene Faenza; Lisa Bregoli; Giulia Ramazzotti; Giancarlo Gaboardi; Matilde Y Follo; Sara Mongiorgi; Anna Maria Billi; Lucia Manzoli; Alberto M Martelli; Lucio Cocco
Journal: Front Biosci Date: 2008-01-01

Review 5. Nuclear phosphoinositide signaling.

Authors: Keqiang Ye; Jee-Yin Ahn
Journal: Front Biosci Date: 2008-01-01

6. Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

Authors: Yanling Zhang; Sergey N Zolov; Clement Y Chow; Shalom G Slutsky; Simon C Richardson; Robert C Piper; Baoli Yang; Johnathan J Nau; Randal J Westrick; Sean J Morrison; Miriam H Meisler; Lois S Weisman
Journal: Proc Natl Acad Sci U S A Date: 2007-10-23 Impact factor: 11.205

Review 7. mTOR signalling in human cancer.

Authors: J Albanell; A Dalmases; A Rovira; F Rojo
Journal: Clin Transl Oncol Date: 2007-08 Impact factor: 3.405

8. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

Authors: Ginat Narkis; Rivka Ofir; Daniella Landau; Esther Manor; Micha Volokita; Relly Hershkowitz; Khalil Elbedour; Ohad S Birk
Journal: Am J Hum Genet Date: 2007-07-24 Impact factor: 11.025

9. Essential role of phosphoinositide metabolism in synaptic vesicle recycling.

Authors: O Cremona; G Di Paolo; M R Wenk; A Lüthi; W T Kim; K Takei; L Daniell; Y Nemoto; S B Shears; R A Flavell; D A McCormick; P De Camilli
Journal: Cell Date: 1999-10-15 Impact factor: 41.582

10. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.

Authors: Heather J McCrea; Summer Paradise; Livia Tomasini; Maria Addis; Maria Antonietta Melis; Maria Antonietta De Matteis; Pietro De Camilli
Journal: Biochem Biophys Res Commun Date: 2008-02-26 Impact factor: 3.575

80 in total

1. Triggering actin comets versus membrane ruffles: distinctive effects of phosphoinositides on actin reorganization.

Authors: Tasuku Ueno; Björn H Falkenburger; Christopher Pohlmeyer; Takanari Inoue
Journal: Sci Signal Date: 2011-12-13 Impact factor: 8.192

2. The inositol Inpp5k 5-phosphatase affects osmoregulation through the vasopressin-aquaporin 2 pathway in the collecting system.

Authors: Eileen Pernot; Sara Terryn; Siew Chiat Cheong; Nicolas Markadieu; Sylvie Janas; Marianne Blockmans; Monique Jacoby; Valérie Pouillon; Stéphanie Gayral; Bernard C Rossier; Renaud Beauwens; Christophe Erneux; Olivier Devuyst; Stéphane Schurmans
Journal: Pflugers Arch Date: 2011-09-22 Impact factor: 3.657

3. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Authors: Katia Hardies; Yiying Cai; Claude Jardel; Anna C Jansen; Mian Cao; Patrick May; Tania Djémié; Caroline Hachon Le Camus; Kathelijn Keymolen; Tine Deconinck; Vikas Bhambhani; Catherine Long; Samin A Sajan; Katherine L Helbig; Arvid Suls; Rudi Balling; Ingo Helbig; Peter De Jonghe; Christel Depienne; Pietro De Camilli; Sarah Weckhuysen
Journal: Brain Date: 2016-07-19 Impact factor: 13.501

Mutations in phosphoinositide metabolizing enzymes and human disease.

1. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.

2. Impact of transgenic overexpression of SH2-containing inositol 5'-phosphatase 2 on glucose metabolism and insulin signaling in mice.

3. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

Review 4. Nuclear phospholipase C beta1 and cellular differentiation.

Review 5. Nuclear phosphoinositide signaling.

6. Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

Review 7. mTOR signalling in human cancer.

8. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

9. Essential role of phosphoinositide metabolism in synaptic vesicle recycling.

10. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.

1. Triggering actin comets versus membrane ruffles: distinctive effects of phosphoinositides on actin reorganization.

2. The inositol Inpp5k 5-phosphatase affects osmoregulation through the vasopressin-aquaporin 2 pathway in the collecting system.

3. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

4. Cell biology: Lipid switches and traffic control.

5. A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.

Review 6. Podocyte endocytosis in the regulation of the glomerular filtration barrier.

Review 7. Polyphosphoinositide-Binding Domains: Insights from Peripheral Membrane and Lipid-Transfer Proteins.

Review 8. Cellular and molecular interactions of phosphoinositides and peripheral proteins.

9. Optogenetic control of phosphoinositide metabolism.

10. Phosphatidylinositol-4-phosphate 5-kinases and phosphatidylinositol 4,5-bisphosphate synthesis in the brain.