2021
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla M, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Melver C, Cox H, Elawad M, Marton T, Wakeling M, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain 2021, 144: 3597-3610. PMID: 34415310, PMCID: PMC8719846, DOI: 10.1093/brain/awab313.Peer-Reviewed Original ResearchConceptsOrgan-specific functionsSequence alterationsStructural modelling studyMultiple cell typesCombinatorial biologyHeterotetrameric complexLipid kinasesMolecular partnersFundamental new insightsPhenotypical outcomesFunctional interactionCell typesMembrane phospholipidsTTC7PhosphatidylinositolCritical roleGene alterationsNew insightsHypomyelinating leukodystrophyEfr3Molecular complexesIIIαPI4KAKinaseComplexes
2012
Dynamin 2 regulates S1P1 signalling and T cell migration (173.15)
Willinger T, Ferguson S, De Camilli P, Flavell R. Dynamin 2 regulates S1P1 signalling and T cell migration (173.15). The Journal Of Immunology 2012, 188: 173.15-173.15. DOI: 10.4049/jimmunol.188.supp.173.15.Peer-Reviewed Original ResearchDynamin 2Cell egressCell migrationT cell-specific deletionT cell egressReceptor-mediated endocytosisVesicle scissionLarge GTPaseCell-specific deletionCell motilityT cell migrationUnexpected roleReceptor internalizationCell surfaceSphingosine 1General defectDynaminAgonist stimulationMigratory responseEndocytosisS1P receptorsThymic egressCritical roleEgressS1P1
2004
Impaired PtdIns(4,5)P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking
Paolo G, Moskowitz HS, Gipson K, Wenk MR, Voronov S, Obayashi M, Flavell R, Fitzsimonds RM, Ryan TA, Camilli P. Impaired PtdIns(4,5)P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking. Nature 2004, 431: 415-422. PMID: 15386003, DOI: 10.1038/nature02896.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAnimalsBiological TransportCells, CulturedClathrinElectric ConductivityEndocytosisExocytosisGene DeletionKineticsMiceMice, KnockoutNeuronsPhosphatidylinositol 4,5-DiphosphatePhosphatidylinositol PhosphatesPhosphotransferases (Alcohol Group Acceptor)Presynaptic TerminalsSynaptic TransmissionSynaptic VesiclesConceptsClathrin coat dynamicsSynaptic vesicle cycleSynaptic vesicle exocytosisSynaptic vesicle traffickingSecond messenger moleculesEarly postnatal lethalityEndocytic intermediatesVesicle traffickingMembrane proteinsVesicle cycleVesicle exocytosisPostnatal lethalityCell regulationRecycling kineticsMessenger moleculesBiochemical studiesSynaptic defectsDirect interactionImportant functionsCritical roleMultiple stepsReleasable poolRegulationNerve terminalsDephosphorylation
1996
Phosphoinositides as Regulators in Membrane Traffic
De Camilli P, Emr S, McPherson P, Novick P. Phosphoinositides as Regulators in Membrane Traffic. Science 1996, 271: 1533-1539. PMID: 8599109, DOI: 10.1126/science.271.5255.1533.Peer-Reviewed Original ResearchConceptsMembrane trafficActivation of proteinsGuanosine triphosphatasesSignal transductionVesicular transportRegulatory mechanismsPhosphatidylinositol metabolitesSecond messengerLocation signalPhosphorylated productsCell surfaceClassical rolePhosphoinositideCritical rolePhosphatidylinositolTransductionTriphosphatasesRegulatorProteinMessengerRegulationPolar headRoleRecruitmentActivation