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
2022
Proximity proteomics of synaptopodin provides insight into the molecular composition of the spine apparatus of dendritic spines
Falahati H, Wu Y, Feuerer V, Simon HG, De Camilli P. Proximity proteomics of synaptopodin provides insight into the molecular composition of the spine apparatus of dendritic spines. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 119: e2203750119. PMID: 36215465, PMCID: PMC9586327, DOI: 10.1073/pnas.2203750119.Peer-Reviewed Original ResearchConceptsSpine apparatusDendritic spinesSubset of neuronsAxon initial segmentDendritic shaftsER cisternsNonneuronal cellsSynaptopodinSpineSmooth endoplasmic reticulumEndoplasmic reticulumCisternal organelleInitial segmentSpecific localizationCisternsBinding proteinPDLIM7Expression patternsSubsetProteinSmall subsetDiseaseNeuronsBrainFunctional partnershipA partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane
Guillén-Samander A, Wu Y, Pineda SS, García FJ, Eisen JN, Leonzino M, Ugur B, Kellis M, Heiman M, De Camilli P. A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 119: e2205425119. PMID: 35994651, PMCID: PMC9436381, DOI: 10.1073/pnas.2205425119.Peer-Reviewed Original ResearchConceptsCaudate neuronsClinical manifestationsExposure of PtdSerPH domainMcLeod syndromeCell surface exposureER-PM contactsLipid dropletsTransport of lipidsPutative roleUnknown mechanismNeuronsLipid transfer proteinVPS13ALipid scramblasesTransfer proteinCytosolic loopExposurePlasma membraneCell surfaceEndoplasmic reticulumLipid transferERSyndromeDisease
2021
Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons
Gowrishankar S, Lyons L, Rafiq NM, Roczniak-Ferguson A, De Camilli P, Ferguson SM. Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons. Molecular Biology Of The Cell 2021, 32: 1094-1103. PMID: 33788575, PMCID: PMC8351540, DOI: 10.1091/mbc.e20-06-0382.Peer-Reviewed Original ResearchConceptsAxonal transportAlzheimer's disease-related amyloid precursor proteinAmyloidogenic APP processingAmyloid precursor proteinDependence of neuronsHuman iPSCNeuronal cell biologyAPP processingAxonal lysosomesNeuronsLoss of JIP3Lysosome abundanceMovement of lysosomesPrecursor proteinCellular modelCritical regulatorStem cellsPluripotent stem cellsAβ42 peptideIPSCsLysosome transportLysosomesOverlapping rolePathology
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 recyclingExocytosisStiff-man syndrome in a woman with breast cancer
Rosin L, DeCamilli P, Butler M, Solimena M, Schmitt H, Morgenthaler N, Meinck H. Stiff-man syndrome in a woman with breast cancer. Neurology 1998, 50: 94-98. PMID: 9443464, DOI: 10.1212/wnl.50.1.94.Peer-Reviewed Original Research
1996
Stiff-Man Syndrome and Glutamic Acid Decarboxylase: An Updated View
Solimena M, Dirkx R, Butler M, Hermel J, Guernaccia J, Marek K, David C, De Camilli P. Stiff-Man Syndrome and Glutamic Acid Decarboxylase: An Updated View. Advances In Pharmacological Sciences 1996, 31-43. DOI: 10.1007/978-3-0348-8990-2_5.Peer-Reviewed Original Research
1995
Targeting of the 67-kDa Isoform of Glutamic Acid Decarboxylase to Intracellular Organelles Is Mediated by Its Interaction with the NH2-terminal Region of the 65-kDa Isoform of Glutamic Acid Decarboxylase (∗)
Dirkx R, Thomas A, Li L, Lernmark Å, Sherwin R, De Camilli P, Solimena M. Targeting of the 67-kDa Isoform of Glutamic Acid Decarboxylase to Intracellular Organelles Is Mediated by Its Interaction with the NH2-terminal Region of the 65-kDa Isoform of Glutamic Acid Decarboxylase (∗). Journal Of Biological Chemistry 1995, 270: 2241-2246. PMID: 7836456, DOI: 10.1074/jbc.270.5.2241.Peer-Reviewed Original ResearchConceptsGolgi complex regionNH2-terminal regionGlutamic acid decarboxylaseAbsence of palmitoylationSoluble cytosolic proteinsAcid decarboxylaseRegions of GAD65Cytosolic proteinsNeurotransmitter gamma-aminobutyric acidDetergent phasePerinuclear regionExtracts of brainIntracellular distributionGamma-aminobutyric acidPellet fractionComplex regionIsoformsProteinFibroblastsGAD67GAD65DecarboxylaseTriton XPalmitoylationNeurons
1993
Exo-Endocytotic Recycling of Synaptic Vesicles in Developing Neurons
Matteoli M, De Camilli P. Exo-Endocytotic Recycling of Synaptic Vesicles in Developing Neurons. 1993, 153-163. DOI: 10.1007/978-1-4757-9542-4_17.Peer-Reviewed Original ResearchLarge dense-core vesiclesSynaptic vesiclesExo-endocytotic recyclingNon-peptide neurotransmittersIntercellular signalingRegulated secretionLarge organellesElectron-dense coreSmall vesiclesDense-core vesiclesVesiclesCore vesiclesExocytosisNeurotransmitter moleculesSynaptic transmissionOrganellesOrgandiesSignalingNeuroactive peptidesNeurotransmittersNeuronsPeptides
1991
Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome
Mitsumoto H, Schwartzman M, Estes M, Chou S, La Franchise E, De Camilli P, Solimena M. Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome. Journal Of Neurology 1991, 238: 91-96. PMID: 1649913, DOI: 10.1007/bf00315688.Peer-Reviewed Original ResearchConceptsStiff-man syndromeGABA-ergic neuronsAutonomic dysfunctionBrain stemSpinal cordCause of deathChronic inflammatory reactionPerivascular gliosisArterial hypertensionPerivascular infiltrationMuscle spasmNeuropathological studiesAutoimmune diseasesBasal gangliaFunctional impairmentUnexpected deathInflammatory reactionLymphocytic perivascular infiltrationSudden deathMuscular abnormalitiesCerebrospinal fluidPupillary dilationFrequent attacksDysfunctionNeurons
1990
Substance 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