Genomes and Genes
Gene Symbol: INPP5E
Description: inositol polyphosphate-5-phosphatase E
Alias: CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin, 72 kDa inositol polyphosphate 5-phosphatase, phosphatidylinositol polyphosphate 5-phosphatase type IV, phosphatidylinositol-4,5-bisphosphate 5-phosphatase
- Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphateX Zhang
Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Biol Chem 273:1574-82. 1998....
- The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphataseM V Kisseleva
Washington University School of Medicine, Department of Internal Medicine, Division of Hematology, St Louis, Missouri 63110, USA
J Biol Chem 275:20110-6. 2000..mRNA was detected in many tissues and cell lines as determined by Northern blotting...
- Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneityK Saar
1Mikrosatellitenzentrum, Max Delbrück Centrum, Humboldt University, Berlin, Germany
Am J Hum Genet 65:1666-71. 1999..We conclude that Joubert syndrome is clinically and genetically heterogeneous and that one locus maps to chromosome 9q...
- Dynamic Remodeling of Membrane Composition Drives Cell Cycle through Primary Cilia ExcisionSiew Cheng Phua
Department of Cell Biology and Center for Cell Dynamics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA Electronic address
Cell 168:264-279.e15. 2017..restriction of ciliary structure dynamics is established by the cilia-enriched phosphoinositide 5-phosphatase, Inpp5e. Growth induction displaces ciliary Inpp5e and accumulates phosphatidylinositol 4,5-bisphosphate in distal cilia...
- INPP5E preserves genomic stability through regulation of mitosisElizabeth A Sierra Potchanant
Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana, USA
Mol Cell Biol . 2016..Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase mutated in the developmental disorders Joubert and MORM syndromes, is ..
- INPP5E regulates phosphoinositide-dependent cilia transition zone functionJennifer M Dyson
Cancer Program, Monash Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia
J Cell Biol . 2016..The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS...
- Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5EShohei Nozaki
Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo ku, Kyoto 606 8501, Japan
J Cell Sci 130:563-576. 2017ARL13B (a small GTPase) and INPP5E (a phosphoinositide 5-phosphatase) are ciliary proteins encoded by causative genes of Joubert syndrome...
- Regulation of lysosomal phosphoinositide balance by INPP5E is essential for autophagosome-lysosome fusionShuhei Nakamura
a Department of Genetics, Graduate School of Medicine, Osaka University, Osaka, Japan
Autophagy 12:2500-2501. 2016..In a recent study, we identified a novel regulator of autophagy, INPP5E (inositol polyphosphate-5-phosphatase E), which is essential for autophagosome-lysosome fusion...
- The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical MembraneWenyan Xu
Department of Molecular and Cell Biology, Tongji University School of Life Sciences and Technology, Shanghai, China
J Am Soc Nephrol 28:118-129. 2017..Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause Joubert syndrome, a human disorder associated with numerous ciliopathic defects, including renal cyst ..
- Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndromeJunya Hasegawa
Laboratory of Intracellular Membrane Dynamics, Graduate School of Frontier Biosciences Osaka University, Osaka, Japan Department of Genetics, Graduate School of Medicine Osaka University, Osaka, Japan
EMBO J 35:1853-67. 2016..Here, we describe a novel autophagy regulator, inositol polyphosphate-5-phosphatase E (INPP5E), involved in autophagosome-lysosome fusion process...
- Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesitySatria P Sajuthi
Division of Public Health Sciences, Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston Salem, NC, 27157, USA
Hum Genet 135:869-80. 2016..g. PIK3C2A, RBMS1, UFSP1), gluco-metabolic phenotypes (e.g. INPP5E, SNX17, ERAP2, FN3KRP), and obesity (e.g. POMC, CPEB4)...
- Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling OutputMarcelo Chàvez
Laboratory of Neurophysiology, ULB Neuroscience Institute, Universite Libre de Bruxelles ULB, Brussels 1070, Belgium Electronic address
Dev Cell 34:338-50. 2015..Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) have been associated with ciliary dysfunction; however, its role in regulating ciliary phosphoinositides is ..
- Ciliary Phosphoinositide Regulates Ciliary Protein Trafficking in DrosophilaJina Park
Department of Oral Biology, Yonsei University College of Dentistry, 50 1 Yonsei ro, Seodaemun gu, Seoul 03722, Korea
Cell Rep 13:2808-16. 2015Cilia are highly specialized antennae-like cellular organelles. Inositol polyphosphate 5-phosphatase E (INPP5E) converts PI(4,5)P2 into PI4P and is required for proper ciliary function...
- TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zoneElle C Roberson
Department of Biochemistry and Biophysics and Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94158
J Cell Biol 209:129-42. 2015..in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts...
- Development of end-stage renal disease at a young age in two cases with Joubert syndromeFerah Sonmez
Division of Pediatric Nephrology, Department of Pediatrics, Adnan Menderes University Faculty of Medicine, Aydin, Turkey
Turk J Pediatr 56:458-61. 2014..1303C>G (p.R435G) homozygous mutation in the INPP5E gene of the other...
- Assembly and replication of HIV-1 in T cells with low levels of phosphatidylinositol-(4,5)-bisphosphateKazuaki Monde
Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Ann Arbor, MI 48109, USA
J Virol 85:3584-95. 2011..In T cells with low PI(4,5)P(2) levels, however, the reduced virus particle production can be compensated for by a mutation that enhances virus infectivity...
- Gag localization and virus-like particle release mediated by the matrix domain of human T-lymphotropic virus type 1 Gag are less dependent on phosphatidylinositol-(4,5)-bisphosphate than those mediated by the matrix domain of HIV-1 GagJingga Inlora
Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Ann Arbor, MI 48109, USA
J Virol 85:3802-10. 2011..Altogether, our data suggest that Gag targeting and membrane binding mediated by HTLV-1 MA does not require PI(4,5)P(2) and that distinct mechanisms regulate HIV-1 and HTLV-1 Gag membrane binding...
- The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalonDario Magnani
Centre for Integrative Physiology, University of Edinburgh, Hugh Robson Building, Edinburgh EH8 9XD, UK
Hum Mol Genet 24:2578-93. 2015..Finally, the abnormal projection of TCAs toward the amygdala is also present in mice carrying a mutation in the Inpp5e gene, which is mutated in Joubert Syndrome and which controls cilia signaling and stability...
- Membrane protein transport in photoreceptors: the function of PDEδ: the Proctor lectureWolfgang Baehr
Department of Ophthalmology, John A Moran Eye Center, University of Utah Health Science Center, University of Utah, Salt Lake City, Utah, United StatesDepartment of Neurobiology and Anatomy, University of Utah Health Science Center, University of Utah, Salt Lake City, Utah, United StatesDepartment of Biology, University of Utah, Salt Lake City, Utah, United States
Invest Ophthalmol Vis Sci 55:8653-66. 2014..specifically impeded trafficking of farnesylated phosphatidylinositol 3,4,5-trisphosphate (PIP3) 5-phosphatase (INPP5E) to cilia, causing severe syndromic ciliopathy (Joubert syndrome)...
- INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stabilityOlga V Plotnikova
Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC 3800, Australia
J Cell Sci 128:364-72. 2015Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause the ciliopathies known as Joubert and MORM syndromes; however, the role of INPP5E in ciliary biology is not well understood...
- Inpp5e increases the Rab5 association and phosphatidylinositol 3-phosphate accumulation at the phagosome through an interaction with Rab20Tomohiro Segawa
Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734 8553, Japan
Biochem J 464:365-75. 2014..We prepared RAW264.7 macrophages deficient in Inpp5e (shInpp5e) to clarify the role of this lipid phosphatase...
- A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndromeKeisuke Sugimoto
Department of Pediatrics, Kinki University School of Medicine
Tohoku J Exp Med 232:163-6. 2014..This missense mutation is located outside the known catalytic domain that is encoded by exons 4 through 15. The present patient carries a novel OCRL1 mutation that is helpful for genetic counseling. ..
- A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas
INSERM U781, H pital Necker Enfants Malades, Paris, France Universit Paris Descartes, Paris Sorbonne, France
Hum Mutat . 2013..Proteomic analysis identified INPP5E, whose mutations also lead to JS or MORM syndromes, as novel prenyl-dependent cargo of PDE6D...
- A Phosphoinositide Code for Primary CiliaFubito Nakatsu
Department of Neurochemistry and Molecular Cell Biology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951 8510, Japan Electronic address
Dev Cell 34:379-80. 2015..Reporting recently in Developmental Cell, Chávez et al. (2015) and Garcia-Gonzalo et al. (2015) show that INPP5E-mediated phosphoinositide metabolism, which creates a specific phosphoinositide distribution, ensures proper ..
- Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog SignalingFrancesc R Garcia-Gonzalo
Department of Biochemistry and Biophysics and Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94158, USA
Dev Cell 34:400-9. 2015..This distribution is created by Inpp5e, a ciliary phosphoinositide 5-phosphatase...
- MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats
Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands
J Med Genet 53:62-72. 2016....
- Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disordersChristian de Goede
Department of Paediatric Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK Faculty of Health and Medicine, Lancaster University, Lancaster, UK
Eur J Paediatr Neurol 20:286-95. 2016..We present results of extended studies on a family of multiple members with global developmental delay and learning disability, where another research group postulated the underlying cause to be a homozygous RABL6 missense variant...
- Interaction between the human immunodeficiency virus type 1 Gag matrix domain and phosphatidylinositol-(4,5)-bisphosphate is essential for efficient gag membrane bindingVineela Chukkapalli
Department of Microbiology and Immunology, University of Michigan Medical School, 1150 W Medical Center Dr, Room 5736A, Ann Arbor, MI 48109, USA
J Virol 82:2405-17. 2008..Altogether, these results indicate that HIV-1 Gag binds PI(4,5)P(2) on the membrane and that the MA basic domain mediates this interaction...
- Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatasesMatthew J Eramo
Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC 3800, Australia
Biochem Soc Trans 44:240-52. 2016..b>INPP5E regulates cilia stability and INPP5E mutations have been implicated ciliopathy syndromes...
- Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesisQingwen Xu
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota 55905, USA
Nat Commun 7:10777. 2016..Iγ phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinase (PIPKIγ) and inositol polyphosphate-5-phosphatase E (INPP5E), a Joubert syndrome protein, localize to the centrosome and coordinate the initiation of ciliogenesis...
- Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signalingSandra Hakim
Cancer Program, Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC 3800, Australia
Hum Mol Genet 25:2295-2313. 2016Polycystic kidney disease (PKD) is a common cause of renal failure with few effective treatments. INPP5E is an inositol polyphosphate 5-phosphatase that dephosphorylates phosphoinositide 3-kinase (PI3K)-generated PI(3,4,5)P3 ..
- Phosphatidylinositol (4,5) bisphosphate regulates HIV-1 Gag targeting to the plasma membraneAkira Ono
Virus Cell Interaction Section, HIV Drug Resistance Program, National Cancer Institute, Frederick, MD 21702 1201, USA
Proc Natl Acad Sci U S A 101:14889-94. 2004..These results demonstrate that PI(4,5)P2 plays a key role in Gag targeting to the plasma membrane and thus serves as a cellular determinant of HIV-1 particle production...
- Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5EKollu N Rao
Department of Ophthalmology, Horae Gene Therapy Center, UMass Medical School, Worcester, MA, USA
Hum Mol Genet . 2016..two JBTS-associated ciliary proteins: PDE6δ (delta subunit of phosphodiesterase; a prenyl-binding protein) and INPP5E (inositol polyphosphate-5-phosphatase 5E)...
- Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini
1 IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory San Giovanni Rotondo, San Giovanni Rotondo, Italy 2 Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
Eur J Hum Genet 21:1074-8. 2013..We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence ..
- The diagnostic utility of exome sequencing in Joubert syndrome and related disordersYoshinori Tsurusaki
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
J Hum Genet 58:113-5. 2013..We applied whole-exome sequencing (WES) to five JSRD families and found mutations in all: either CEP290, TMEM67 or INPP5E was mutated...
- Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK InhibitorsYan Ye
Department of Immunology, Anhui Medical University, Anhui, China
Transl Oncol 6:470-81. 2013....
- PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanomaYan Ye
School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales 2308, Australia
Nat Commun 4:1508. 2013..Collectively, these results establish the tumour suppressive role of phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal mechanisms involved in its downregulation in melanoma...
- ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targetingMelissa C Humbert
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA
Proc Natl Acad Sci U S A 109:19691-6. 2012..Here, we describe a protein-protein interaction network of inositol polyphosphate-5-phosphatase E (INPP5E), a prenylated protein associated with JBTS, and its ciliary targeting mechanisms...
- Inositol polyphosphate phosphatases in human diseaseSandra Hakim
Department of Biochemistry and Molecular Biology, Monash University, Wellington Rd, Clayton 3800, Australia
Curr Top Microbiol Immunol 362:247-314. 2012..Genetic mutations in the 5-phosphatase INPP5E are causative of the ciliopathy syndromes Joubert and MORM, and mutations in the 5-phosphatase OCRL result in Lowe'..
- Inhibition of 72 kDa inositol polyphosphate 5-phosphatase E improves insulin signal transduction in diet-induced obesityDaniela F Bertelli
Laboratory of Cell Signaling, Department of Internal Medicine, Faculty of Applied Sciences and Department of Nursing, University of Campinas, DCM FCM, UNICAMP, 13084 970, Campinas, SP, Brazil
J Endocrinol 217:131-40. 2013..72k-5ptase expression is increased in obesity and its AS inhibition resulted in a significant improvement in insulin signal transduction and restoration of glucose homeostasis...
- Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafishNa Luo
Glick Eye Institute, Department of Ophthalmology, Indiana University School of Medicine, 1160 W Michigan Street, Indianapolis, IN 46202, United States
Vision Res 75:98-107. 2012..Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, ..
- Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesSarah E Conduit
Department of Biochemistry and Molecular Biology, Monash University, Wellington Road, Clayton, Victoria 3800, Australia
FEBS Lett 586:2846-57. 2012..Mutations in two inositol polyphosphate 5-phosphatases, INPP5E and OCRL, cause the cerebrorenal syndromes of Joubert and Lowe's, respectively...
- Phosphoinositide phosphatases: just as important as the kinasesJennifer M Dyson
Department of Biochemistry and Molecular Biology, Monash University, Wellington Rd, 3800, Clayton, Australia
Subcell Biochem 58:215-79. 2012..Two 5-phosphatase genes, OCRL and INPP5E are mutated in Lowe and Joubert syndrome respectively...
- Proteomic analysis of mammalian primary ciliaHiroaki Ishikawa
Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94158, USA
Curr Biol 22:414-9. 2012..These possible primary cilia-specific proteins include EVC2, INPP5E, and inversin, several of which have been linked to known ciliopathies...
- Lowe syndromeMario Loi
Division of Paediatric Neurology, G Brotzu Hospital, Cagliari, Italy
Orphanet J Rare Dis 1:16. 2006..Life span rarely exceeds 40 years...
- In vivo drug-response in patients with leukemic non-Hodgkin's lymphomas is associated with in vitro chemosensitivity and gene expression profilingKai Uwe Chow
University Hospital, Department of Internal Medicine II, Hematology and Oncology, Frankfurt Main, Germany
Pharmacol Res 53:49-61. 2006..TNF alpha converting enzyme (ADAM17/TACE), homeo box A3 (HOX1), inositol polyphosphatase 5-phosphatase type IV (PPI5PIV) and inhibitor of p53 induced apoptosis alpha (IPIA-Alpha/NM23-H6)...
- Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi networkRawshan Choudhury
Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom
Mol Biol Cell 16:3467-79. 2005..These findings suggest a role for OCRL1 in clathrin-mediated trafficking of proteins from endosomes to the TGN and that defects in this pathway might contribute to the Lowe syndrome phenotype...
- Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi networkAdèle Faucherre
Institut Cochin, Département de Génétiques, Developpement et Pathologie Moleculaire, INSERM U567 CNRS UMR8104 Université Paris V, France
Hum Mol Genet 12:2449-56. 2003..Moreover, loss of OCRL1 RhoGAP and the resulting alteration in Rho pathways may contribute to mental retardation in Lowe syndrome, as illustrated in other forms of X-linked mental retardation...
- The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerizationSharon F Suchy
National Human Genome Research Institute, Bethesda, MD 20892, USA
Am J Hum Genet 71:1420-7. 2002..These findings point to a general mechanism to explain how this PIP(2) 5-phosphatase deficiency might produce the Lowe syndrome phenotype...
- Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi networkA M Kong
Department of Biochemistry and Molecular Biology and Department of Anatomy and Cell Biology, Monash University, Clayton, Victoria 3168, Australia
J Biol Chem 275:24052-64. 2000..We propose that the novel 5-phosphatase hydrolyzes phosphatidylinositol 3,4, 5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby may regulate Golgi-vesicular trafficking...
- First report of prenatal biochemical diagnosis of Lowe syndromeS F Suchy
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Prenat Diagn 18:1117-21. 1998..We report here the first case of prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes...
- Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in miceP A Jänne
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA
J Clin Invest 101:2042-53. 1998....
- INP51, a yeast inositol polyphosphate 5-phosphatase required for phosphatidylinositol 4,5-bisphosphate homeostasis and whose absence confers a cold-resistant phenotypeL E Stolz
Departments of Pharmacology and Cancer Biology and of Biochemistry, Duke Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 273:11852-61. 1998..In addition, we define a novel role for a 5-phosphatase loss of function mutant that improves the growth of cells at colder temperatures without alteration of growth at normal temperatures, which may have useful commercial applications...
- Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasisS Srinivasan
LGDR NHGRI National Institutes of Health, Bethesda, MD 20892 4472, USA
Eur J Cell Biol 74:350-60. 1997..No defect in carboxypeptidase Y sorting was seen in a processing and targeting assay. Abnormal actin cytoskeleton morphology was present in some of the strains carrying mutations in two of the genes...
- Novel OCRL1 mutations in patients with the phenotype of Dent diseaseBoris Utsch
Klinik mit Poliklinik für Kinder und Jugendliche, Universitat Erlangen Nurnberg, Erlangen, Germany
Am J Kidney Dis 48:942.e1-14. 2006..A recent study showed that defects in OCRL1, encoding a phosphatidylinositol 4,5-bisphosphate 5-phosphatase (Ocrl) and usually found mutated in patients with Lowe syndrome, also can provoke a Dent-like phenotype (Dent 2 disease)...
- Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificityMitsunori Fukuda
Laboratory of Membrane Trafficking Mechanisms, Department of Developmental Biology and Neurosciences, Graduate School of Life Sciences, Tohoku University, Aobayama, Aoba ku, Sendai, Miyagi 980 8578, Japan
Mol Cell Proteomics 7:1031-42. 2008..The interaction of eight of the novel Rab-binding proteins identified (e.g. INPP5E and Cog4) with a specific Rab isoform was confirmed by co-immunoprecipitation assay and/or colocalization analysis ..
- The role of the inositol polyphosphate 5-phosphatases in cellular function and human diseaseLisa M Ooms
Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia
Biochem J 419:29-49. 2009..2, SKIP (skeletal muscle- and kidney-enriched inositol phosphatase) and 72-5ptase (72 kDa 5-ptase)/Type IV/Inpp5e (inositol polyphosphate 5-phosphatase E) are implicated in negatively regulating insulin signalling and glucose ..
- INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouseMonique Jacoby
Institut de Recherches Interdisciplinaires en Biologie Humaine et Moléculaire, Institut de Biologie et de Médecine Moléculaires, Universite Libre de Bruxelles, Gosselies, Belgium
Nat Genet 41:1027-31. 2009..Here, we report that mice deficient for the lipid 5-phosphatase Inpp5e develop a multiorgan disorder associated with structural defects of the primary cilium...
- Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas
Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, USA
Nat Genet 41:1032-6. 2009..In individuals with Joubert disease genetically linked to JBTS1, we identified mutations in the INPP5E gene, encoding inositol polyphosphate-5-phosphatase E, which hydrolyzes the 5-phosphate of PtdIns(3,4,5)P3 and ..
- X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- miceDavid J Bernard
Inborn Errors and Cell Biology, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mamm Genome 21:186-94. 2010..5-dpc blastocyst prior to implantation. These results indicate a functional overlap of Ocrl and Inpp5b in most cell lineages, especially in extraembryonic tissues...
- Normal cognitive functions in joubert syndromeA Poretti
Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
Neuropediatrics 40:287-90. 2009..Molecular investigations demonstrated a homozygous mutation in the INPP5E gene...
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
J Med Genet 48:105-16. 2011..To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised...
- Paradoxical effect of caspofungin against Candida bloodstream isolates is mediated by multiple pathways but eliminated in human serumRyan K Shields
Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
Antimicrob Agents Chemother 55:2641-7. 2011..We implicate the Irs4-Inp51 phosphatidylinositol-(4,5)-bisphosphate 5'-phosphatase as a novel regulator of paradoxical growth...
- Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesJianjun Chen
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA
Invest Ophthalmol Vis Sci 52:5317-24. 2011..The aim of our study was to define further the spectrum of BBS mutations in a cohort of 44 European-derived American, 8 Tunisian, 1 Arabic, and 2 Pakistani families (55 families in total) with BBS...
- The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphataseX Zhang
Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 92:4853-6. 1995..Deficiency of this enzyme apparently causes the protean manifestations of Lowe syndrome...