2023
Synaptic 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
2020
Absence of Sac2/INPP5F enhances the phenotype of a Parkinson’s disease mutation of synaptojanin 1
Cao M, Park D, Wu Y, De Camilli P. Absence of Sac2/INPP5F enhances the phenotype of a Parkinson’s disease mutation of synaptojanin 1. Proceedings Of The National Academy Of Sciences Of The United States Of America 2020, 117: 12428-12434. PMID: 32424101, PMCID: PMC7275725, DOI: 10.1073/pnas.2004335117.Peer-Reviewed Original ResearchConceptsSynaptojanin 1Sac domain-containing proteinsDisease mutationsDomain-containing proteinsGenome-wide association studiesPD risk lociSynaptic vesicle recyclingEndocytic factorsPD risk genesPhosphatase domainPhosphoinositide phosphataseParkinson's diseaseNumerous genesParkinson’s disease mutationsVesicle recyclingRisk lociAssociation studiesRisk genesInactivating mutationStriatal dopaminergic nerve terminalsGenesOccasional survivorsMutationsDopaminergic nerve terminalsSJ1
2019
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse
Koopmans F, van Nierop P, Andres-Alonso M, Byrnes A, Cijsouw T, Coba M, Cornelisse L, Farrell R, Goldschmidt H, Howrigan D, Hussain N, Imig C, de Jong A, Jung H, Kohansalnodehi M, Kramarz B, Lipstein N, Lovering R, MacGillavry H, Mariano V, Mi H, Ninov M, Osumi-Sutherland D, Pielot R, Smalla K, Tang H, Tashman K, Toonen R, Verpelli C, Reig-Viader R, Watanabe K, van Weering J, Achsel T, Ashrafi G, Asi N, Brown T, De Camilli P, Feuermann M, Foulger R, Gaudet P, Joglekar A, Kanellopoulos A, Malenka R, Nicoll R, Pulido C, de Juan-Sanz J, Sheng M, Südhof T, Tilgner H, Bagni C, Bayés À, Biederer T, Brose N, Chua J, Dieterich D, Gundelfinger E, Hoogenraad C, Huganir R, Jahn R, Kaeser P, Kim E, Kreutz M, McPherson P, Neale B, O'Connor V, Posthuma D, Ryan T, Sala C, Feng G, Hyman S, Thomas P, Smit A, Verhage M. SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse. Neuron 2019, 103: 217-234.e4. PMID: 31171447, PMCID: PMC6764089, DOI: 10.1016/j.neuron.2019.05.002.Peer-Reviewed Original Research
2017
Synaptic Vesicle Clusters at Synapses: A Distinct Liquid Phase?
Milovanovic D, De Camilli P. Synaptic Vesicle Clusters at Synapses: A Distinct Liquid Phase? Neuron 2017, 93: 995-1002. PMID: 28279363, PMCID: PMC5347463, DOI: 10.1016/j.neuron.2017.02.013.Peer-Reviewed Original ResearchParkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons
Cao M, Wu Y, Ashrafi G, McCartney AJ, Wheeler H, Bushong EA, Boassa D, Ellisman MH, Ryan TA, De Camilli P. Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons. Neuron 2017, 93: 882-896.e5. PMID: 28231468, PMCID: PMC5340420, DOI: 10.1016/j.neuron.2017.01.019.Peer-Reviewed Original ResearchConceptsDopaminergic axonsEarly-onset parkinsonism patientsEndocytic dysfunctionNeurological manifestationsParkinsonism patientsDystrophic changesParkinson's diseaseDorsal striatumHuman patientsClathrin-coated intermediatesParkin levelsHomozygous mutationMutant brainsSynaptojanin 1Domain mutationsTerminal changesPatientsStriking accumulationAxonsDiseaseMiceSynapsesSynaptic vesicle endocytosisMutationsDysfunction
2001
Synaptojanin 1 Contributes to Maintaining the Stability of GABAergic Transmission in Primary Cultures of Cortical Neurons
Lüthi A, Di Paolo G, Cremona O, Daniell L, De Camilli P, McCormick D. Synaptojanin 1 Contributes to Maintaining the Stability of GABAergic Transmission in Primary Cultures of Cortical Neurons. Journal Of Neuroscience 2001, 21: 9101-9111. PMID: 11717343, PMCID: PMC6763888, DOI: 10.1523/jneurosci.21-23-09101.2001.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAnimalsAnimals, NewbornCells, CulturedCerebral CortexElectric StimulationExcitatory Amino Acid AntagonistsExcitatory Postsynaptic PotentialsGABA AntagonistsGamma-Aminobutyric AcidMiceNerve Tissue ProteinsNeural InhibitionNeuronsPatch-Clamp TechniquesPhosphatidylinositolsPhosphoric Monoester HydrolasesSodium Channel BlockersSynapsesSynaptic TransmissionSynaptic VesiclesConceptsPaired-pulse depressionHalf-maximal depressionSteady-state depressionSynaptic depressionWhole-cell patch-clamp recordingsSlow depressionInhibitory synaptic responsesPaired-pulse protocolPrimary cortical culturesHigh-frequency stimulationPatch-clamp recordingsBi-exponential time courseUnitary IPSCsGABA releaseGABAergic transmissionCortical culturesPostsynaptic responsesCortical neuronsInhibitory synapsesSynaptic responsesSynaptojanin 1Presynaptic stimulationInhibitory neuronsRelease probabilityStimulation frequencyDifferential Expression of Endophilin 1 and 2 Dimers at Central Nervous System Synapses*
Ringstad N, Nemoto Y, De Camilli P. Differential Expression of Endophilin 1 and 2 Dimers at Central Nervous System Synapses*. Journal Of Biological Chemistry 2001, 276: 40424-40430. PMID: 11518713, DOI: 10.1074/jbc.m106338200.Peer-Reviewed Original ResearchConceptsEndophilin-1SH3 domain-mediated interactionsDiverse cellular proteinsDomain-mediated interactionsSynaptic vesicle biogenesisNH2-terminal moietyCoiled-coil domainCentral nervous system synapsesGTPase dynaminVesicle biogenesisDifferent cellular targetsEndocytic machineryCellular proteinsSynaptojanin 1Endophilin isoformsRelated proteinsDifferential expressionCellular targetsStable dimerSynaptojaninDynaminSame complexProteinCentral synapsesFamily members
2000
Synaptic Autoimmunity and the Salk Factor
Solimena M, De Camilli P. Synaptic Autoimmunity and the Salk Factor. Neuron 2000, 28: 309-316. PMID: 11144336, DOI: 10.1016/s0896-6273(00)00105-7.Peer-Reviewed Original Research
1999
Endophilin/SH3p4 Is Required for the Transition from Early to Late Stages in Clathrin-Mediated Synaptic Vesicle Endocytosis
Ringstad N, Gad H, Löw P, Di Paolo G, Brodin L, Shupliakov O, De Camilli P. Endophilin/SH3p4 Is Required for the Transition from Early to Late Stages in Clathrin-Mediated Synaptic Vesicle Endocytosis. Neuron 1999, 24: 143-154. PMID: 10677033, DOI: 10.1016/s0896-6273(00)80828-4.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAmino Acid SequenceAnimalsAntibodiesCaenorhabditis elegansCarrier ProteinsCell-Free SystemClathrinCoated Pits, Cell-MembraneDynaminsEndocytosisGTP PhosphohydrolasesLampreysMicroscopy, ElectronMolecular Sequence DataRatsSpinal CordSrc Homology DomainsSynapsesSynaptic VesiclesConceptsSynaptic vesicle endocytosisVesicle endocytosisClathrin coatClathrin-coated pitsSynaptic vesicle recyclingCell-free systemEndophilin functionGTPase dynaminFunctional partnersVesicle fissionBiochemical machineryVesicle recyclingSH3p4EndophilinDynaminEndocytosisAntibody-mediated disruptionProteinActive zoneSynaptojaninClathrinLater stagesCoatMachineryInvaginationTetanus Toxin Blocks the Exocytosis of Synaptic Vesicles Clustered at Synapses But Not of Synaptic Vesicles in Isolated Axons
Verderio C, Coco S, Bacci A, Rossetto O, De Camilli P, Montecucco C, Matteoli M. Tetanus Toxin Blocks the Exocytosis of Synaptic Vesicles Clustered at Synapses But Not of Synaptic Vesicles in Isolated Axons. Journal Of Neuroscience 1999, 19: 6723-6732. PMID: 10436029, PMCID: PMC6782867, DOI: 10.1523/jneurosci.19-16-06723.1999.Peer-Reviewed Original Research
1998
Calcium Dependence of Synaptic Vesicle Recycling Before and After Synaptogenesis
Coco S, Verderio C, De Camilli P, Matteoli M. Calcium Dependence of Synaptic Vesicle Recycling Before and After Synaptogenesis. Journal Of Neurochemistry 1998, 71: 1987-1992. PMID: 9798923, DOI: 10.1046/j.1471-4159.1998.71051987.x.Peer-Reviewed Original ResearchConceptsSynaptic contactsCalcium concentrationSynaptic vesicle exocytosisFormation of synapsesSynaptic vesicle recyclingVesicle recyclingHippocampal neuronsIntracellular calciumVesicle exocytosisImmunocytochemical assayNeurotransmitter releaseDifferent calcium concentrationsLow calcium concentrationsSynaptic vesiclesCalcium dependenceHigh calcium concentrationsSynaptogenesisNeuronsCalciumRelease componentCalcium sensorEndocytotic recyclingExocytosis
1997
Synaptic Vesicle Endocytosis Impaired by Disruption of Dynamin-SH3 Domain Interactions
Shupliakov O, Löw P, Grabs D, Gad H, Chen H, David C, Takei K, De Camilli P, Brodin L. Synaptic Vesicle Endocytosis Impaired by Disruption of Dynamin-SH3 Domain Interactions. Science 1997, 276: 259-263. PMID: 9092476, DOI: 10.1126/science.276.5310.259.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBinding SitesCell MembraneCoated Pits, Cell-MembraneDynaminsEndocytosisGTP PhosphohydrolasesHumansLampreysMicroscopy, ElectronMolecular Sequence DataNerve Tissue ProteinsProlineRecombinant Fusion ProteinsSrc Homology DomainsSynapsesSynaptic TransmissionSynaptic VesiclesConceptsSynaptic vesicle endocytosisSH3 domainVesicle endocytosisSrc homology 3 (SH3) domain-containing proteinsDomain-containing proteinsClathrin-coated pitsClathrin-mediated endocytosisSH3 binding siteAmphiphysin SH3 domainSynaptic vesicle recyclingCOOH-terminal regionDynamin bindsDynamin functionBinding partnerVesicle recyclingDomain interactionsDynamin peptidePhysiological roleEndocytosisEssential roleBinding sitesSynaptic architectureSH3DomainAmphiphysin
1995
Keeping synapses up to speed
De Camilli P. Keeping synapses up to speed. Nature 1995, 375: 450-451. PMID: 7777050, DOI: 10.1038/375450a0.Peer-Reviewed Original Research
1993
Autoantibodies to a 128-kd Synaptic Protein in Three Women with the Stiff-Man Syndrome and Breast Cancer
Folli F, Solimena M, Cofiell R, Austoni M, Tallini G, Fasseta G, Bates D, Cartlidge N, Bottazzo G, Piccolo G, De Camilli P. Autoantibodies to a 128-kd Synaptic Protein in Three Women with the Stiff-Man Syndrome and Breast Cancer. New England Journal Of Medicine 1993, 328: 546-551. PMID: 8381208, DOI: 10.1056/nejm199302253280805.Peer-Reviewed Original ResearchMeSH KeywordsAgedAnimalsAutoantibodiesAutoantigensBlotting, WesternBrainBreast NeoplasmsCarcinoma, Intraductal, NoninfiltratingCerebrospinal FluidFemaleGlutamate DecarboxylaseHumansImmunoenzyme TechniquesMiddle AgedNerve Tissue ProteinsParaneoplastic SyndromesPrecipitin TestsRatsStiff-Person SyndromeSynapsesConceptsStiff-man syndromeBreast cancerNervous systemOrgan-specific autoimmune diseasesInsulin-dependent diabetes mellitusSmall invasive ductal carcinomaNervous system antigensPercent of patientsOccult breast cancerSubgroup of patientsInvasive ductal carcinomaDetection of autoantibodiesCentral nervous systemParaneoplastic originControl patientsDiabetes mellitusThird patientDuctal carcinomaAutoimmune diseasesSystem antigensProgressive rigidityAutoantibodiesCerebrospinal fluidRare diseasePatients
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 cellsSynapsinCellsSynaptophysinPhosphoprotein