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
2001
The 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
1999
Epidermal growth factor pathway substrate 15, Eps15
Salcini A, Chen H, Iannolo G, De Camilli P, Di Fiore P. Epidermal growth factor pathway substrate 15, Eps15. The International Journal Of Biochemistry & Cell Biology 1999, 31: 805-809. PMID: 10481267, DOI: 10.1016/s1357-2725(99)00042-4.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAnimalsCalcium-Binding ProteinsCarrier ProteinsCell LineChromosomes, Human, Pair 1EndocytosisEpidermal Growth FactorHumansIntracellular Signaling Peptides and ProteinsNeuropeptidesPhosphoproteinsSignal TransductionTransferrinVesicular Transport ProteinsConceptsEpidermal growth factor receptorPutative coiled-coil regionCoiled-coil regionCell proliferationNIH 3T3 cellsReceptor-mediated endocytosisEH domainNH2-terminal portionEndocytic machineryEpsin functionIntracellular sortingEps15Growth factor receptorTerminal domainAP-2Kinase activityBinding proteinMultiple copiesBiomolecular strategiesProteinFactor receptorTripartite structureMLL geneGenesProliferation
1998
Endocytosis proteins and cancer: a potential link?
Floyd S, De Camilli P. Endocytosis proteins and cancer: a potential link? Trends In Cell Biology 1998, 8: 299-301. PMID: 9704404, DOI: 10.1016/s0962-8924(98)01316-6.Peer-Reviewed Original ResearchConceptsEndocytosis proteinsVariety of proteinsHuman haematopoietic malignanciesReceptor-mediated endocytosisAbnormal expressionClathrin adaptorsBiology of cancerChromosomal rearrangementsHuman cancersProteinHaematopoietic malignanciesRecent studiesPotential mechanismsExpressionPotential linkClathrinEndocytosisGenesAdaptorBiologyMutationsRearrangementCancerTarget
1996
A presynaptic inositol-5-phosphatase
McPherson P, Garcia E, Slepnev V, David C, Zhang X, Grabs D, Sossini W, Bauerfeind R, Nemoto Y, De Camilli P. A presynaptic inositol-5-phosphatase. Nature 1996, 379: 353-357. PMID: 8552192, DOI: 10.1038/379353a0.Peer-Reviewed Original ResearchConceptsSH3 domainAmino-terminal domainSynaptic vesicle recyclingRelative molecular massPutative functionsNerve terminal proteinSynaptojaninTerminal proteinVesicle recyclingMajor brain proteinsCarboxy terminusTermination sitesMolecular massOculocerebrorenal syndromeSynaptic vesiclesPresynaptic proteinsDynaminPhosphoinositide metabolismProteinBrain proteinsPhospholipid metabolismMetabolismGrb2DomainGenes
1995
The function of dynamin in endocytosis
De Camilli P, Takei K, McPherson P. The function of dynamin in endocytosis. Current Opinion In Neurobiology 1995, 5: 559-565. PMID: 8580706, DOI: 10.1016/0959-4388(95)80059-x.Peer-Reviewed Original ResearchConceptsFunction of dynaminSynaptic vesicle endocytosisShibire geneShibire mutantsGTPase dynaminDrosophila melanogasterVesicle endocytosisVesicle fissionRestrictive temperatureGTP hydrolysisConformational changesDynaminEssential roleEndocytosisForm ringsRecent studiesMelanogasterClathrinMutantsGenesFissionHydrolysis
1994
The role of Rab3A in neurotransmitter release
Geppert M, Bolshakov V, Siegelbaum S, Takei K, De Camilli P, Hammer R, Südhof T. The role of Rab3A in neurotransmitter release. Nature 1994, 369: 493-497. PMID: 7911226, DOI: 10.1038/369493a0.Peer-Reviewed Original ResearchConceptsRole of Rab3ASynaptic vesicle exocytosisSmall GTPRab3A geneHomologous recombinationVesicle exocytosisSynaptic vesiclesHippocampal CA1 pyramidal cellsSynaptic proteinsProteinCA1 pyramidal cellsNeurotransmitter releaseExocytosisGTPPyramidal cellsRepetitive stimulationSynaptic depressionElectrophysiological recordingsRepetitive stimuliCompensatory changesShort trainsRabphilinRab3Rab3AGenes