2024
Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons
Rafiq N, Fujise K, Rosenfeld M, Xu P, De Camilli P. Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2318943121. PMID: 38635628, PMCID: PMC11047088, DOI: 10.1073/pnas.2318943121.Peer-Reviewed Original ResearchConceptsSynaptojanin 1Endocytic factorsDA neuronsCilia-mediated signalingNerve terminalsIPSC-derived dopaminergic neuronsUbiquitin chainsUbiquitinated proteinsCiliary baseCilia lengthNeurological defectsDopaminergic neuronsProtein dynamicsDomain mutationsAssembly stateIsogenic controlsNeuronsAbnormal accumulationMutationsMiceFocal concentrationParkinsonPI(4UbiquitinEndocytosis
2023
Mutations in Parkinsonism-linked endocytic proteins synaptojanin1 and auxilin have synergistic effects on dopaminergic axonal pathology
Ng X, Wu Y, Lin Y, Yaqoob S, Greene L, De Camilli P, Cao M. Mutations in Parkinsonism-linked endocytic proteins synaptojanin1 and auxilin have synergistic effects on dopaminergic axonal pathology. Npj Parkinson's Disease 2023, 9: 26. PMID: 36792618, PMCID: PMC9932162, DOI: 10.1038/s41531-023-00465-5.Peer-Reviewed Original ResearchParkinson's diseaseMutant miceStriatal nerve terminalsSingle mutant miceDouble mutant miceDAergic markersDAergic terminalsAtypical parkinsonismDAergic neuronsStriatal interneuronsNeurological manifestationsAxonal pathologyDopaminergic inputNerve terminalsSynaptojanin 1Dystrophic changesPD pathogenesisKnockout miceRisk proteinsSynaptic defectsNeurodegenerative disordersParkinsonismMiceAdaptive changesDiseaseSynaptic vesicle proteins and ATG9A self-organize in distinct vesicle phases within synapsin condensates
Park D, Wu Y, Wang X, Gowrishankar S, Baublis A, De Camilli P. Synaptic vesicle proteins and ATG9A self-organize in distinct vesicle phases within synapsin condensates. Nature Communications 2023, 14: 455. PMID: 36709207, PMCID: PMC9884207, DOI: 10.1038/s41467-023-36081-3.Peer-Reviewed Original ResearchConceptsMembrane proteinsSV membrane proteinsVesicle membrane proteinEctopic expression systemSynaptic vesicle proteinsSynaptic vesicle clustersSV proteinsVesicle proteinsEctopic expressionExpression systemVesicle clustersSynapsinProteinLiquid-like propertiesVesiclesDistinct classesDual roleSynapsin 1FibroblastsATG9ASynapsesExpressionDistinct phasesNerve terminalsClusters
2004
Impaired PtdIns(4,5)P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking
Paolo G, Moskowitz HS, Gipson K, Wenk MR, Voronov S, Obayashi M, Flavell R, Fitzsimonds RM, Ryan TA, Camilli P. Impaired PtdIns(4,5)P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking. Nature 2004, 431: 415-422. PMID: 15386003, DOI: 10.1038/nature02896.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAnimalsBiological TransportCells, CulturedClathrinElectric ConductivityEndocytosisExocytosisGene DeletionKineticsMiceMice, KnockoutNeuronsPhosphatidylinositol 4,5-DiphosphatePhosphatidylinositol PhosphatesPhosphotransferases (Alcohol Group Acceptor)Presynaptic TerminalsSynaptic TransmissionSynaptic VesiclesConceptsClathrin coat dynamicsSynaptic vesicle cycleSynaptic vesicle exocytosisSynaptic vesicle traffickingSecond messenger moleculesEarly postnatal lethalityEndocytic intermediatesVesicle traffickingMembrane proteinsVesicle cycleVesicle exocytosisPostnatal lethalityCell regulationRecycling kineticsMessenger moleculesBiochemical studiesSynaptic defectsDirect interactionImportant functionsCritical roleMultiple stepsReleasable poolRegulationNerve terminalsDephosphorylation
2001
Chronic Blockade of Glutamate Receptors Enhances Presynaptic Release and Downregulates the Interaction between Synaptophysin-Synaptobrevin–Vesicle-Associated Membrane Protein 2
Bacci A, Coco S, Pravettoni E, Schenk U, Armano S, Frassoni C, Verderio C, De Camilli P, Matteoli M. Chronic Blockade of Glutamate Receptors Enhances Presynaptic Release and Downregulates the Interaction between Synaptophysin-Synaptobrevin–Vesicle-Associated Membrane Protein 2. Journal Of Neuroscience 2001, 21: 6588-6596. PMID: 11517248, PMCID: PMC6763110, DOI: 10.1523/jneurosci.21-17-06588.2001.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCells, CulturedDown-RegulationEndocytosisExcitatory Amino Acid AntagonistsExcitatory Postsynaptic PotentialsExocytosisHippocampusMacromolecular SubstancesMembrane ProteinsNeuronsPatch-Clamp TechniquesPresynaptic TerminalsProtein BindingRatsReceptors, GlutamateReceptors, N-Methyl-D-AspartateR-SNARE ProteinsSynaptic TransmissionSynaptic VesiclesSynaptophysinTetrodotoxinConceptsGlutamate receptorsSynapse formationSynaptic vesicle recyclingMiniature EPSC frequencyGlutamate receptor blockersGlutamatergic nerve terminalsNumber of synapsesUptake of antibodiesVesicle recyclingChronic blockadeReceptor blockersEPSC frequencyPresynaptic releaseNerve terminalsHippocampal neuronsPresynaptic functionPostsynaptic functionChronic exposureChronic presenceInterneuronal signalingNeuronal culturesNeuronal circuitsMembrane protein 2Intracellular perfusionPrimary cultures
1999
The Interaction of Epsin and Eps15 with the Clathrin Adaptor AP-2 Is Inhibited by Mitotic Phosphorylation and Enhanced by Stimulation-dependent Dephosphorylation in Nerve Terminals*
Chen H, Slepnev V, Di Fiore P, De Camilli P. The Interaction of Epsin and Eps15 with the Clathrin Adaptor AP-2 Is Inhibited by Mitotic Phosphorylation and Enhanced by Stimulation-dependent Dephosphorylation in Nerve Terminals*. Journal Of Biological Chemistry 1999, 274: 3257-3260. PMID: 9920862, DOI: 10.1074/jbc.274.6.3257.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Protein Complex alpha SubunitsAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAnimalsBase SequenceCalcium-Binding ProteinsCarrier ProteinsCell LineDNA PrimersEndocytosisExocytosisIntracellular Signaling Peptides and ProteinsMembrane ProteinsMiceMitosisNerve EndingsNeuropeptidesPhosphoproteinsPhosphorylationProtein BindingRatsVesicular Transport Proteins
1998
Role of Phosphorylation in Regulation of the Assembly of Endocytic Coat Complexes
Slepnev V, Ochoa G, Butler M, Grabs D, De Camilli P. Role of Phosphorylation in Regulation of the Assembly of Endocytic Coat Complexes. Science 1998, 281: 821-824. PMID: 9694653, DOI: 10.1126/science.281.5378.821.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Protein Complex alpha SubunitsAdaptor Protein Complex beta SubunitsAdaptor Proteins, Vesicular TransportAdenosine TriphosphateAnimalsBinding SitesCarbazolesChromatography, AffinityClathrinCyclosporineDimerizationDynamin IDynaminsEndocytosisEnzyme InhibitorsGTP PhosphohydrolasesIndole AlkaloidsMembrane ProteinsNerve Tissue ProteinsPhosphoric Monoester HydrolasesRatsRecombinant Fusion ProteinsSrc Homology DomainsExpression of Amphiphysin I, an Autoantigen of Paraneoplastic Neurological Syndromes, in Breast Cancer
Floyd S, Butler M, Cremona O, David C, Freyberg Z, Zhang X, Solimena M, Tokunaga A, Ishizu H, Tsutsui K, De Camilli P. Expression of Amphiphysin I, an Autoantigen of Paraneoplastic Neurological Syndromes, in Breast Cancer. Molecular Medicine 1998, 4: 29-39. PMID: 9513187, PMCID: PMC2230265, DOI: 10.1007/bf03401727.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAmino Acid SequenceAmino Acid SubstitutionAnimalsAntibodiesAntibodies, MonoclonalAutoantigensAutoimmunityBlotting, WesternBrainBreastBreast NeoplasmsChromatography, AffinityCloning, MolecularFemaleGene ExpressionHumansIsomerismMolecular Sequence DataNerve Tissue ProteinsNervous System DiseasesPolymerase Chain ReactionProtein BiosynthesisRatsStiff-Person SyndromeTumor Cells, CulturedConceptsBreast cancer tissuesBreast cancerCancer tissuesParaneoplastic sensory neuronopathyHuman breast cancer tissuesParaneoplastic neurological syndromesAutoimmune neurological disordersStiff-man syndromeNormal mammary tissueNon-neuronal tissuesAmphiphysin IForms of cancerSensory neuronopathyNeurological syndromeI antibodiesNerve terminalsDominant autoantigenI expressionNeurological disordersMammary tissueCancerAmino acid insertCancer cellsEnhanced expressionKD isoform
1997
Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15
Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler M, Salcini A, Di Fiore P, De Camilli P. Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. FEBS Letters 1997, 419: 175-180. PMID: 9428629, DOI: 10.1016/s0014-5793(97)01451-8.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAmino Acid SequenceAnimalsCalcium-Binding ProteinsClathrinEndocytosisHumansImmunohistochemistryIntracellular Signaling Peptides and ProteinsMolecular Sequence DataNerve EndingsNerve Tissue ProteinsPhosphoproteinsPhosphoric Monoester HydrolasesRatsSequence AlignmentSynaptic TransmissionSynaptic VesiclesConceptsSynaptojanin 1Endocytic intermediatesClathrin-coated pitsCOOH-terminal regionEH domainSpecies threeEps15Multiplicity of interactionsPutative roleClathrinNerve terminalsEndocytosisIsoformsProteinPrevious dataMotifInositolIntermediatesBindingInteractionPhenylalanineLocalizationNew evidenceDomain
1996
Alzheimer Amyloid Protein Precursor Is Localized in Nerve Terminal Preparations to Rab5-containing Vesicular Organelles Distinct from Those Implicated in the Synaptic Vesicle Pathway*
Ikin A, Annaert W, Takei K, De Camilli P, Jahn R, Greengard P, Buxbaum J. Alzheimer Amyloid Protein Precursor Is Localized in Nerve Terminal Preparations to Rab5-containing Vesicular Organelles Distinct from Those Implicated in the Synaptic Vesicle Pathway*. Journal Of Biological Chemistry 1996, 271: 31783-31786. PMID: 8943215, DOI: 10.1074/jbc.271.50.31783.Peer-Reviewed Original ResearchConceptsAmyloid protein precursorSmall synaptic vesiclesSynaptic vesiclesVesicular organellesProtein precursorSynaptic vesicle recycling pathwayNerve terminal preparationsSynaptic vesicle pathwayVesicle recycling pathwayAlzheimer amyloid protein precursorRecycling pathwayVesicle pathwayOrganellesVesiclesImmunoisolatesPathwayHomogeneous populationRab5Nerve terminalsHigh levelsDistinctPrecursorsSubstantial numberBilamellar vesicles
1995
Molecular mechanisms in synaptic vesicle recycling
De Camilli P. Molecular mechanisms in synaptic vesicle recycling. FEBS Letters 1995, 369: 3-12. PMID: 7641879, DOI: 10.1016/0014-5793(95)00739-v.Peer-Reviewed Original ResearchConceptsSynaptic vesicle recyclingVesicle recyclingSynaptic vesiclesMolecular mechanismsPowerful experimental modelVesicular trafficVesicle reformationNon-peptide neurotransmittersSecretory organellesRecycling pathwayHigh specializationVesiclesSpecialized formExocytosisRecent studiesNerve terminalsOrganellesMechanismRecyclingAbundanceCurrent informationPathwayUnique properties
1994
Formation of synaptic vesicles
Mundigl O, De Camilli P. Formation of synaptic vesicles. Current Opinion In Cell Biology 1994, 6: 561-567. PMID: 7986534, DOI: 10.1016/0955-0674(94)90077-9.Peer-Reviewed Original ResearchConceptsSynaptic vesiclesNew synaptic vesiclesSV membranesTransport vesiclesEvolutionary originNon-peptide neurotransmittersMembrane proteinsSecretory organellesFocal signalingVesiclesExocytosisMolecular compositionCellsGamma-aminobutyric acidOrganellesSignalingNerve cellsProteinDepolarization-induced Ca2PathwaySignificant progressNeurotransmittersMembraneAssemblyNerve terminalsRecycling and biogenesis of synaptic vesicles
McPherson P, De Camilli P. Recycling and biogenesis of synaptic vesicles. Seminars In Neuroscience 1994, 6: 137-147. DOI: 10.1006/smns.1994.1019.Peer-Reviewed Original ResearchSynaptic vesiclesRegulated secretory pathwaySpecialized organellesSecretory pathwayEarly endosomesConstitutive recyclingVesicular pathwayMembrane componentsVesiclesBiogenesisSecretory granulesDependent fashionPlasmalemmaPathwayEndosomesOrganellesExocytosisNervous systemRecyclingNerve terminalsAvailable informationOpen questionGranulesCa2
1990
Synapsins in the vertebrate retina: Absence from ribbon synapses and heterogeneous distribution among conventional synapses
Mandell J, Townes-Anderson E, Czernik A, Cameron R, Greengard P, De Camilli P. Synapsins in the vertebrate retina: Absence from ribbon synapses and heterogeneous distribution among conventional synapses. Neuron 1990, 5: 19-33. PMID: 2114884, DOI: 10.1016/0896-6273(90)90030-j.Peer-Reviewed Original ResearchConceptsConventional synapsesRibbon synapsesAmacrine cellsBipolar cellsIntrinsic membrane proteinsSynapsin IAdult rat retinaNerve terminal phosphoproteinVertebrate retinaMembrane proteinsNerve terminalsRat retinaVesicle clusteringSalamander retinaSynapse typesSynaptic vesiclesMolecular differencesRetinaRod cellsSynapsesCone cellsSynapsinCellsSynaptophysinPhosphoproteinSubstance P-like immunoreactivity at the frog neuromuscular junction
Matteoli M, Haimann C, De Camilli P. Substance P-like immunoreactivity at the frog neuromuscular junction. Neuroscience 1990, 37: 271-275. PMID: 1700842, DOI: 10.1016/0306-4522(90)90213-n.Peer-Reviewed Original ResearchConceptsLike immunoreactivitySubstance PNerve terminalsCalcitonin gene-related peptide-like immunoreactivityGene-related peptide-like immunoreactivityFrog motor nerve endingsPeptide-like immunoreactivityMotor nerve endingsLarge dense-core vesiclesFrog neuromuscular junctionDense-core vesiclesCholinergic transmissionNerve endingsSame neuronsNeuromuscular junctionImmunoreactivityFrog motoneuronsPhysiological roleImmunofluorescence approachPrevious dataMotoneuronsNeurons
1987
Synaptophysin immunoreactivity and small clear vesicles in neuroendocrine cells and related tumours
Buffa R, Rindi G, Sessa F, Gini A, Capella C, Jahn R, Navone F, De Camilli P, Solcia E. Synaptophysin immunoreactivity and small clear vesicles in neuroendocrine cells and related tumours. Molecular And Cellular Probes 1987, 1: 367-381. PMID: 3134611, DOI: 10.1016/0890-8508(87)90018-1.Peer-Reviewed Original ResearchConceptsSynaptophysin immunoreactivityNeuroendocrine cellsClear vesiclesGut endocrine tumorsHuman adrenal medullaThyroid medullary carcinomaSmall clear vesiclesNon-chromaffin paragangliomaParathyroid adenomaMedullary carcinomaNeuroendocrine carcinomaNeuroendocrine tumorsCarotid bodyEndocrine tumorsGastrointestinal mucosaLung carcinoidsNerve terminalsPituitary adenomasAdrenal medullaPituitary cellsTumorsEndocrine cellsImmunoreactivityEndocrine granulesGeneral marker