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
2017
Parkinson 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
2000
Nobel Celebrates the Neurosciences Modulatory Signaling in the Brain
De Camilli P, Carew T. Nobel Celebrates the Neurosciences Modulatory Signaling in the Brain. Cell 2000, 103: 829-834. PMID: 11136967, DOI: 10.1016/s0092-8674(00)00185-9.Peer-Reviewed Original Research
1979
Dopamine inhibits adenylate cyclase in human prolactin-secreting pituitary adenomas
DE CAMILLI P, MACCONI D, SPADA A. Dopamine inhibits adenylate cyclase in human prolactin-secreting pituitary adenomas. Nature 1979, 278: 252-254. PMID: 423973, DOI: 10.1038/278252a0.Peer-Reviewed Original ResearchConceptsDA receptorsPRL secretionProlactin-secreting pituitary adenomasAdenylate cyclaseBasal adenylate cyclaseSame pharmacological propertiesClasses of receptorsDopamine inhibitsDopaminergic agonistsProlactin secretionPituitary adenomasNormal anteriorPRL adenomasPharmacological propertiesReceptorsSecretionCyclic AMPAdenomasCyclaseAgonistsAnteriorPRL