2016
Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy
Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S. Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. Journal Of The American Society Of Nephrology 2016, 28: 1399-1407. PMID: 27895154, PMCID: PMC5407733, DOI: 10.1681/asn.2016080913.Peer-Reviewed Original ResearchConceptsEarly embryonic lethalityTransporter 5Dent's diseaseIndependent endocytosisEmbryonic lethalityRedundant functionsType 2 inositolHuman phenotypesProximal tubule endocytosisOculocerebrorenal syndromeGenetic ablationCellular levelGermline knockoutLowe syndromeEndocytosisMouse backgroundMice resultsMutationsInositolLow molecular weight proteinuriaINPP5BParalogsProximal tubule functionDramatic effectOCRL
2015
Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway
Nakatsu F, Messa M, Nández R, Czapla H, Zou Y, Strittmatter SM, De Camilli P. Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway. Journal Of Cell Biology 2015, 209: 85-95. PMID: 25869668, PMCID: PMC4395491, DOI: 10.1083/jcb.201409064.Peer-Reviewed Original ResearchConceptsEndocytic membranesPosition of inositolRecruitment of inositolSAC domainEndocytic pathwayPlasma membraneINPP5FSequential dephosphorylationOCRLDephosphorylationEndocytosisSynaptojaninRab5EndosomesYeastInositolMembranePhosphataseMacropinosomesClathrinCoimmunoprecipitationPtdInsPhosphoinositideVesiclesPathway
2014
Identification of Inhibitors of Inositol 5‑Phosphatases through Multiple Screening Strategies
Pirruccello M, Nandez R, Idevall-Hagren O, Alcazar-Roman A, Abriola L, Berwick SA, Lucast L, Morel D, De Camilli P. Identification of Inhibitors of Inositol 5‑Phosphatases through Multiple Screening Strategies. ACS Chemical Biology 2014, 9: 1359-1368. PMID: 24742366, PMCID: PMC4076014, DOI: 10.1021/cb500161z.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedDermisElectrophoretic Mobility Shift AssayEnzyme InhibitorsFibroblastsFluorescence PolarizationHigh-Throughput Screening AssaysHumansInositol Polyphosphate 5-PhosphatasesMolecular StructurePhosphatidylinositol PhosphatesPhosphoric Monoester HydrolasesRosaniline DyesSignal TransductionSmall Molecule LibrariesThiadiazolesTriazolesConceptsPhosphoinositide-metabolizing enzymesGrowth factor signalingSmall molecule modulatorsIdentification of inhibitorsFamily of enzymesMembrane traffickingActin nucleationCytoskeletal dynamicsCell cortexPhosphoinositide levelsCatalytic domainFactor signalingMolecule modulatorsHigh-throughput screeningLiving cellsSpecific inhibitorActivity assaysMembrane phospholipidsDirect interactionCell proliferationChemical scaffoldsPowerful research toolPotential therapeutic applicationsOCRLPhosphoinositide
2012
Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling
Bohdanowicz M, Balkin D, De Camilli P, Grinstein S. Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling. The FASEB Journal 2012, 26: 1065.1-1065.1. DOI: 10.1096/fasebj.26.1_supplement.1065.1.Peer-Reviewed Original Research
2009
A PH domain within OCRL bridges clathrin‐mediated membrane trafficking to phosphoinositide metabolism
Mao Y, Balkin DM, Zoncu R, Erdmann KS, Tomasini L, Hu F, Jin MM, Hodsdon ME, De Camilli P. A PH domain within OCRL bridges clathrin‐mediated membrane trafficking to phosphoinositide metabolism. The EMBO Journal 2009, 28: 1831-1842. PMID: 19536138, PMCID: PMC2711190, DOI: 10.1038/emboj.2009.155.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBinding SitesClathrinCoated VesiclesEndocytosisHeLa CellsHumansModels, MolecularMolecular Sequence DataMutationNuclear Magnetic Resonance, BiomolecularPhosphatidylinositolsPhospholipidsPhosphoric Monoester HydrolasesProtein ConformationProtein Structure, TertiaryRatsSequence AlignmentConceptsPH domainNH2-terminal portionEndocytic clathrin-coated pitsClathrin-binding siteClathrin-coated pitsNMR structure determinationNH2-terminal regionCOOH-terminal regionClathrin-box motifsMembrane traffickingEvolutionary pressureSimilar proteinsINPP5BOCRLSpecialized functionsSequence dissimilarityLowe syndromePhosphoinositide metabolismDent's diseaseHeavy chainMutationsRecruitment efficiencyStructure determinationMetabolismDomain
2008
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
McCrea HJ, Paradise S, Tomasini L, Addis M, Melis MA, De Matteis MA, De Camilli P. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding. Biochemical And Biophysical Research Communications 2008, 369: 493-499. PMID: 18307981, PMCID: PMC2442618, DOI: 10.1016/j.bbrc.2008.02.067.Peer-Reviewed Original ResearchConceptsDisease-causing missense mutationsSpecific cellular sitesActive Rab5Endocytic pathwayProtein networkOCRLPatient mutationsAPPL1Missense mutationsLowe syndromeCellular sitesDisease phenotypeRab5Renal Fanconi syndromeMutationsDent's diseaseEndosomesDomainProteinBilateral cataractsNeonatal hypotoniaReabsorption defectFanconi syndromePhenotypeInositol
2007
A Role of the Lowe Syndrome Protein OCRL in Early Steps of the Endocytic Pathway
Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J, Biemesderfer D, Toomre D, De Camilli P. A Role of the Lowe Syndrome Protein OCRL in Early Steps of the Endocytic Pathway. Developmental Cell 2007, 13: 377-390. PMID: 17765681, PMCID: PMC2025683, DOI: 10.1016/j.devcel.2007.08.004.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAmino Acid SequenceAnimalsCarrier ProteinsCell LineChlorocebus aethiopsClathrin-Coated VesiclesCOS CellsCrystallography, X-RayEndocytosisEndosomesGlutathione TransferaseGreen Fluorescent ProteinsHumansKidneyModels, BiologicalModels, MolecularMolecular Sequence DataMutationPhosphatidylinositol 4,5-DiphosphatePhosphatidylinositolsPhosphoric Monoester HydrolasesPhosphorylationProtein Structure, SecondaryProtein Structure, TertiaryRecombinant Fusion ProteinsSequence Homology, Amino AcidTime FactorsConceptsEndocytic pathwayLike domainEndocytic clathrin-coated pitsLowe syndrome protein OCRLRole of OCRLEarly endocytic pathwayClathrin-coated pitsPeripheral early endosomesPhosphatase domainMembrane traffickingEarly endosomesGrowth factor receptorProtein networkClathrin boxOCRLDisease mutationsCell surfaceEarly stepsLowe syndromeFactor receptorRenal Fanconi syndromeDisease mechanismsMembrane interfaceAPPL1Predominant localization
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