2025
Molecular Components of Vesicle Cycling at the Rod Photoreceptor Ribbon Synapse
Hanke-Gogokhia C, Zapadka T, Finkelstein S, Arshavsky V, Demb J. Molecular Components of Vesicle Cycling at the Rod Photoreceptor Ribbon Synapse. Advances In Experimental Medicine And Biology 2025, 1468: 325-330. PMID: 39930217, DOI: 10.1007/978-3-031-76550-6_54.Peer-Reviewed Original ResearchConceptsSynaptic vesicle exocytosisSynaptic vesicle recyclingPhotoreceptor ribbon synapseVesicle exocytosisVesicle recyclingVesicle cycleVesicle releaseRibbon synapseProtein synthesisProperties of synaptic transmissionMolecular componentsMouse rodsSynaptic terminalsRod cellsProteinVesiclesRod photoreceptorsDim lightSynaptic transmissionInner segmentsCellsExocytosisEndocytosisOuter segmentsEnergy production
2024
The p. S178L mutation in Tbc1d24 disrupts endosome‐mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice
Chen P, Hou S, Li G, Lin Y, Lu J, Song L, Li G, Pang X, Wu H, Yang T. The p. S178L mutation in Tbc1d24 disrupts endosome‐mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice. Clinical Genetics 2024, 107: 67-77. PMID: 39400345, DOI: 10.1111/cge.14620.Peer-Reviewed Original ResearchNon-syndromic hearing lossSynaptic vesiclesRibbon synapses of cochlear inner hair cellsAutosomal dominant non-syndromic hearing lossDominant non-syndromic hearing lossEndosome-like vacuolesEndosomal membrane traffickingInner hair cellsSynaptic vesicle traffickingHearing lossRibbon synapsesHair cell ribbon synapsesKnock-in mouse modelMutant miceSustained exocytosisVesicle traffickingEndosomal traffickingMembrane traffickingVesicle recyclingIn vitro interactionCochlear inner hair cellsReduced exocytosisWave I amplitudeMild hearing lossAuditory brainstem response
2021
Genes related to SNPs identified by Genome-wide association studies of age-related hearing loss show restriction to specific cell types in the adult mouse cochlea
Xue N, Song L, Song Q, Santos-Sacchi J, Wu H, Navaratnam D. Genes related to SNPs identified by Genome-wide association studies of age-related hearing loss show restriction to specific cell types in the adult mouse cochlea. Hearing Research 2021, 410: 108347. PMID: 34536825, DOI: 10.1016/j.heares.2021.108347.Peer-Reviewed Original ResearchConceptsSingle-cell RNA sequencingApical cell polarityGenome-wide association studiesAdult mouse cochleaSpecific cell typesCell polaritySubtypes of cellsSignificant genetic componentSingle nucleotide polymorphismsVesicle recyclingRNA sequencingAssociation studiesGenesVarying ExpressionCell typesGenetic componentNucleotide polymorphismsSNPsMouse cochleaCell functionGenesetsHair cellsHair cell functionSignificant overlapExpressionTranscriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration
Jimenez‐Marin A, Diez I, Labayru G, Sistiaga A, Caballero M, Andres‐Benito P, Sepulcre J, Ferrer I, de Munain A, Cortes J. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration. Neuropathology And Applied Neurobiology 2021, 47: 1092-1108. PMID: 33955002, PMCID: PMC9292638, DOI: 10.1111/nan.12725.Peer-Reviewed Original ResearchConceptsMicrotubule-associated protein tauAllen Human Brain AtlasRNA analysisSynaptic vesicle recyclingSynaptic vesicle genesHypothesis-driven genesGene clusterDopamine neurotransmitter pathwaysVesicle recyclingProtein tauTranscriptome mapTranscriptome interactionsTau pathologyMyotonic dystrophy type IBrain degenerationBiological processesGenesHuman Brain AtlasAlzheimer's diseaseTranscriptional signatureNeurobiological mechanismsCognitive functionAlpha-synucleinNeurotransmitter pathwaysRNA
2020
Oxidative stress battles neuronal Bcl-xL in a fight to the death
Park HA, Broman K, Jonas EA. Oxidative stress battles neuronal Bcl-xL in a fight to the death. Neural Regeneration Research 2020, 16: 12-15. PMID: 32788441, PMCID: PMC7818872, DOI: 10.4103/1673-5374.286946.Peer-Reviewed Original ResearchBcl-xLMitochondrial membraneBcl-xL.BCL2 proteinFO ATP synthaseBcl-XL bindsPost-translational phosphorylationOxidative stressBcl-x geneSynaptic vesicle recyclingActivation of caspasesPro-survival proteinsMitochondrial ATP productionAnti-apoptotic roleUndergoes proteolytic cleavageMultiprotein complexesATP synthaseTranscription factorsVesicle recyclingBCL2 familyApoptotic signalingKey regulatorPhysiological processesAlters formationATP productionAbsence 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
cindr, the Drosophila Homolog of the CD2AP Alzheimer’s Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis
Ojelade S, Lee T, Giagtzoglou N, Yu L, Ugur B, Li Y, Duraine L, Zuo Z, Petyuk V, De Jager P, Bennett D, Arenkiel B, Bellen H, Shulman J. cindr, the Drosophila Homolog of the CD2AP Alzheimer’s Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis. Cell Reports 2019, 28: 1799-1813.e5. PMID: 31412248, PMCID: PMC6703184, DOI: 10.1016/j.celrep.2019.07.041.Peer-Reviewed Original ResearchConceptsPlasma membrane calcium ATPaseDisease risk genesDisease susceptibility genesSynaptic vesicle recyclingUbiquitin-proteasome systemMembrane calcium ATPaseAlzheimer’s disease risk genesDrosophila homologConserved roleAlzheimer's disease susceptibility genesSynaptic proteostasisAdaptor proteinNeuronal requirementsVesicle recyclingProteostasisCindrRisk genesSusceptibility genesSynapse maturationHuman postmortem brainHuman tauProtein levelsNeurofibrillary tangle pathologyNull miceAD susceptibility
2016
Physiological roles of the mitochondrial permeability transition pore
Mnatsakanyan N, Beutner G, Porter GA, Alavian KN, Jonas EA. Physiological roles of the mitochondrial permeability transition pore. Journal Of Bioenergetics And Biomembranes 2016, 49: 13-25. PMID: 26868013, PMCID: PMC4981558, DOI: 10.1007/s10863-016-9652-1.BooksConceptsMitochondrial permeability transition poreATP synthaseOxidative phosphorylationATP productionMulti-protein enzymeF1Fo-ATP synthaseMembrane potential maintenanceInner mitochondrial membraneSynaptic vesicle recyclingMembrane-inserted portionPermeability transition poreMitochondrial permeability transitionRegulatory complexC subunitCellular functionsVesicle recyclingMitochondrial membraneCardiac developmentRegulatory mechanismsMitochondrial productionTransition porePermeability transitionPhysiological roleCell deathEnzymatic portion
2014
Fluorescent Measurement of Synaptic Activity Using SynaptopHluorin in Isolated Hippocampal Neurons.
Li H, Park HA, Jonas EA. Fluorescent Measurement of Synaptic Activity Using SynaptopHluorin in Isolated Hippocampal Neurons. Bio-protocol 2014, 4 PMID: 27446978, PMCID: PMC4950945, DOI: 10.21769/bioprotoc.1304.Peer-Reviewed Original ResearchA dynamin 1-, dynamin 3- and clathrin-independent pathway of synaptic vesicle recycling mediated by bulk endocytosis
Wu Y, O'Toole ET, Girard M, Ritter B, Messa M, Liu X, McPherson PS, Ferguson SM, De Camilli P. A dynamin 1-, dynamin 3- and clathrin-independent pathway of synaptic vesicle recycling mediated by bulk endocytosis. ELife 2014, 3: e01621. PMID: 24963135, PMCID: PMC4107917, DOI: 10.7554/elife.01621.Peer-Reviewed Original ResearchConceptsClathrin-mediated endocytosisDynamin 1Bulk endosomesBulk endocytosisSynaptic vesiclesNew synaptic vesiclesClathrin-independent pathwaySynaptic vesicle recyclingSV membranesSV reformationDynamin 3Vesicle recyclingClathrinEndocytosisLarge endocytic vacuolesEndocytic vacuolesEndosomesPotent stimulationIntense synaptic activityVacuolesPathwaySynaptic activityMassive formationExocytosisBuds
2013
Contributions of Bcl-xL to acute and long term changes in bioenergetics during neuronal plasticity
Jonas EA. Contributions of Bcl-xL to acute and long term changes in bioenergetics during neuronal plasticity. Biochimica Et Biophysica Acta 2013, 1842: 1168-1178. PMID: 24240091, PMCID: PMC4018426, DOI: 10.1016/j.bbadis.2013.11.007.Peer-Reviewed Original ResearchConceptsBcl-xLCaspase activationAnti-death proteinCell death stimuliMitochondrial membrane permeabilitySub-cellular membranesSynaptic vesicle recyclingNeuronal plasticityNormal neuronal plasticityInhibitor ABT-737Ion channel activityMitochondrial Bcl-xLMitochondrial positioningDeath stimuliMitochondrial releaseVesicle recyclingSynaptic growthMitochondrial functionNeurite retractionNeuronal activitySynaptic strengthSynaptic efficacyABT-737Channel activityLong-term decline
2012
Role of dynamin, synaptojanin, and endophilin in podocyte foot processes
Soda K, Balkin DM, Ferguson SM, Paradise S, Milosevic I, Giovedi S, Volpicelli-Daley L, Tian X, Wu Y, Ma H, Son SH, Zheng R, Moeckel G, Cremona O, Holzman LB, De Camilli P, Ishibe S. Role of dynamin, synaptojanin, and endophilin in podocyte foot processes. Journal Of Clinical Investigation 2012, 122: 4401-4411. PMID: 23187129, PMCID: PMC3533561, DOI: 10.1172/jci65289.Peer-Reviewed Original ResearchConceptsRole of dynaminNormal embryonic developmentFiltration barrierSynaptic vesicle recyclingFoot process formationKidney filtration barrierGlomerular filtration barrierNeuronal synapse developmentDynamin's roleEndophilin 3Actin cytoskeletonActin dynamicsFunctional partnersDynamin 1Endophilin-1Embryonic developmentVesicle recyclingProtein networkKidney's glomerular filtration barrierSynapse developmentDynaminPodocyte foot processesNeuronal synapsesSynaptojaninEndophilin
2006
Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages
Perera RM, Zoncu R, Lucast L, De Camilli P, Toomre D. Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages. Proceedings Of The National Academy Of Sciences Of The United States Of America 2006, 103: 19332-19337. PMID: 17158794, PMCID: PMC1693868, DOI: 10.1073/pnas.0609795104.Peer-Reviewed Original ResearchConceptsTotal internal reflection fluorescence microscopySynaptojanin 1CCP formationMulticolor total internal reflection fluorescence microscopyClathrin-coated pit dynamicsClathrin-coated pitsClathrin-dependent endocytosisEndocytic clathrin adaptorsSynaptic vesicle recyclingReflection fluorescence microscopyCell-free systemClathrin adaptorsPolyphosphoinositide phosphataseGenetic manipulationVesicle recyclingPit dynamicsIntact cellsSplice variantsFunctional studiesFluorescence microscopyEndophilinTemporal recruitmentDirect interactionIsoformsPredominant isoformBCL-xL regulates synaptic plasticity.
Jonas E. BCL-xL regulates synaptic plasticity. Molecular Interventions 2006, 6: 208-22. PMID: 16960143, DOI: 10.1124/mi.6.4.7.Peer-Reviewed Original ResearchConceptsBcl-xLSynaptic vesicle recyclingRole of mitochondriaHigh synaptic activityMembrane ion pumpsMitochondrial localizationCalcium homeostasisVesicle recyclingPresynaptic terminalsPredominant organellesCell deathSynaptic vesiclesSynaptic developmentIon pumpsIntracellular calcium homeostasisRecent discoveryMitochondriaSynaptic transmitter releaseHomeostasisSynaptic plasticitySynaptic sitesSynapseSynaptic processesSynaptic activityOrganelles
2004
Svp1p defines a family of phosphatidylinositol 3,5‐bisphosphate effectors
Dove SK, Piper RC, McEwen RK, Yu JW, King MC, Hughes DC, Thuring J, Holmes AB, Cooke FT, Michell RH, Parker PJ, Lemmon MA. Svp1p defines a family of phosphatidylinositol 3,5‐bisphosphate effectors. The EMBO Journal 2004, 23: 1922-1933. PMID: 15103325, PMCID: PMC404323, DOI: 10.1038/sj.emboj.7600203.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAutophagy-Related ProteinsBase SequenceCloning, MolecularEndosomesEscherichia coliGene ComponentsGenetic VectorsGreen Fluorescent ProteinsMembrane ProteinsMolecular Sequence DataPhosphatidylinositol PhosphatesPhosphotransferases (Alcohol Group Acceptor)PlasmidsProtein BindingProtein FoldingProtein TransportRhinovirusSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsSequence AlignmentSequence Analysis, DNAVacuolesConceptsFamily of phosphatidylinositolSaccharomyces cerevisiae mutantsDrosophila homologueCerevisiae mutantsMembrane recyclingVesicle recyclingVacuole enlargementVacuole membraneMultivesicular bodiesRelated proteinsLysosomal compartmentMarker proteinsExquisite specificityEffectorsProteinPhosphatidylinositolVacuolesEukaryotesCellsMutantsLocalisesGolgiHomologuesMVBGenes
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 BindingR-SNARE ProteinsRatsReceptors, GlutamateReceptors, N-Methyl-D-AspartateSynaptic 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 culturesThe Eps15 C. elegans homologue EHS-1 is implicated in synaptic vesicle recycling
Salcini A, Hilliard M, Croce A, Arbucci S, Luzzi P, Tacchetti C, Daniell L, De Camilli P, Pelicci P, Di Fiore P, Bazzicalupo P. The Eps15 C. elegans homologue EHS-1 is implicated in synaptic vesicle recycling. Nature Cell Biology 2001, 3: 755-760. PMID: 11483962, DOI: 10.1038/35087075.Peer-Reviewed Original ResearchMeSH KeywordsAldicarbAnimalsAnimals, Genetically ModifiedCaenorhabditis elegansCalcium-Binding ProteinsDynaminsFluorescent Antibody TechniqueGanglia, InvertebrateGene DeletionGenes, ReporterGTP PhosphohydrolasesInsecticidesMicroscopy, ElectronMolecular Sequence DataMovement DisordersMutationNerve Tissue ProteinsNervous SystemPhenotypePhosphoproteinsProtein TransportSequence Homology, Nucleic AcidSynaptic VesiclesTemperatureConceptsSynaptic vesicle recyclingVesicle recyclingEHS-1Protein-protein interactionsMammalian Eps15Dynamin proteinsEH domainEndocytic machineryEps15Mutant formsPermissive temperatureFunctional studiesSynaptic vesiclesDynaminUncoordinated movementsPresynaptic defectsProteinPhenotypeOrthologuesCaenorhabditisWormsGenesNematodesMachineryVesicles
2000
Accessory factors in clathrin-dependent synaptic vesicle endocytosis
Slepnev V, De Camilli P. Accessory factors in clathrin-dependent synaptic vesicle endocytosis. Nature Reviews Neuroscience 2000, 1: 161-172. PMID: 11257904, DOI: 10.1038/35044540.Peer-Reviewed Original ResearchConceptsAccessory factorsNumerous accessory proteinsSynaptic vesicle endocytosisClathrin-mediated endocytosisRecent structural studiesPlasma membrane componentsSynaptic vesicle recyclingInternalization of receptorsVesicle endocytosisCoat assemblyExtracellular ligandsClathrin coatMolecular detailsVesicle recyclingAccessory proteinsGenetic studiesEndocytosisMembrane componentsSurface proteinsClathrinStructural studiesProteinVesiclesInternalizationNew aspectsDirect interaction of the 170 kDa isoform of synaptojanin 1 with clathrin and with the clathrin adaptor AP-2
Haffner C, Di Paolo G, Rosenthal J, De Camilli P. Direct interaction of the 170 kDa isoform of synaptojanin 1 with clathrin and with the clathrin adaptor AP-2. Current Biology 2000, 10: 471-474. PMID: 10801423, DOI: 10.1016/s0960-9822(00)00446-2.Peer-Reviewed Original ResearchConceptsClathrin adaptor AP-2Adaptor AP-2AP-2Synaptojanin 1Unique carboxy-terminal regionClathrin coat dynamicsAlpha-adaptin subunitCarboxy-terminal domainCarboxy-terminal extensionAmino-terminal domainSynaptic vesicle recyclingCarboxy-terminal regionBinding of clathrinReceptor-mediated endocytosisChinese hamster ovary cellsActin functionPolyphosphoinositide phosphataseEar domainClathrin coatHamster ovary cellsVesicle recyclingVariety of tissuesTransferrin uptakePleiotropic rolesClathrin
1999
Essential Role of Phosphoinositide Metabolism in Synaptic Vesicle Recycling
Cremona O, Di Paolo G, Wenk M, Lüthi A, Kim W, Takei K, Daniell L, Nemoto Y, Shears S, Flavell R, McCormick D, De Camilli P. Essential Role of Phosphoinositide Metabolism in Synaptic Vesicle Recycling. Cell 1999, 99: 179-188. PMID: 10535736, DOI: 10.1016/s0092-8674(00)81649-9.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell-Free SystemCerebral CortexCoated Pits, Cell-MembraneEndocytosisEnzyme InhibitorsExonsHippocampusIn Vitro TechniquesMembrane PotentialsMiceMice, KnockoutMicroscopy, ElectronNerve EndingsNerve Tissue ProteinsNeuronsPhosphatidylinositolsPhosphoric Monoester HydrolasesSynaptic Vesicles
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