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
2017
Contacts between the endoplasmic reticulum and other membranes in neurons
Wu Y, Whiteus C, Xu CS, Hayworth KJ, Weinberg RJ, Hess HF, De Camilli P. Contacts between the endoplasmic reticulum and other membranes in neurons. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e4859-e4867. PMID: 28559323, PMCID: PMC5474793, DOI: 10.1073/pnas.1701078114.Peer-Reviewed Original ResearchConceptsEndoplasmic reticulumER–plasma membrane contactsER-PM contactsMembrane contactSmaller focal contactsRegulation of CaInterorganelle communicationOrganelle biogenesisDifferent neuronal compartmentsCell physiologyIntracellular membranesFocal contactsMultivesicular bodiesER contactsIntracellular organellesER cisternaeLipid homeostasisBiochemical studiesTubulovesicular structuresMembrane appositionNeuronal compartmentsImportant functionsMitochondriaReticulumMembrane
2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL, Consortium A, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S, Afawi Z, Baulac S, Barisic N, Caglayan H, Craiu D, De Kovel C, Lopez R, Guerrini R, Hjalgrim H, Lerche H, Jahn J, Klein K, Koeleman B, Leguern E, Lemke J, Marini C, Muhle H, Rosenow F, Serratosa J, Štěrbová K, Møller R, Palotie A, Striano P, Weber Y, Zara F. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain 2016, 139: 2420-2430. PMID: 27435091, PMCID: PMC4995362, DOI: 10.1093/brain/aww180.Peer-Reviewed Original ResearchConceptsProgressive neurological declineEarly-onset refractory seizuresHomozygous missense variantEarly-onset parkinsonismRefractory seizuresNeurological declineOnset parkinsonismNeurodegenerative disease courseAdditional pathogenic variantsMissense variantsDifferent neurological diseasesHomozygous nonsense variantDual phosphatase activityDisease courseRefractory epilepsyTau pathologyClinical spectrumIntractable epilepsySevere epilepsySeizure pathophysiologySynaptic dysregulationLarge cohortSingle patientNeurological diseasesEpilepsy
2001
Autoimmunity to βIV spectrin in paraneoplastic lower motor neuron syndrome
Berghs S, Ferracci F, Maksimova E, Gleason S, Leszczynski N, Butler M, De Camilli P, Solimena M. Autoimmunity to βIV spectrin in paraneoplastic lower motor neuron syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2001, 98: 6945-6950. PMID: 11391009, PMCID: PMC34458, DOI: 10.1073/pnas.121170798.Peer-Reviewed Original ResearchConceptsLower motor neuron syndromeMotor neuron syndromeParaneoplastic neurological disordersAxons of motoneuronsSevere neurological diseaseAxon initial segmentNodes of RanvierAutoimmune pathogenesisAutoimmune targetNeurological symptomsBreast cancerPartial improvementNeurological diseasesAffected neuronsNeurological disordersSyndromeAutoantibodiesCancer removalCancer cellsBetaIV spectrinAutoimmunityMajor targetSurface epitopesPathogenesisAxons
2000
Synaptic Autoimmunity and the Salk Factor
Solimena M, De Camilli P. Synaptic Autoimmunity and the Salk Factor. Neuron 2000, 28: 309-316. PMID: 11144336, DOI: 10.1016/s0896-6273(00)00105-7.Peer-Reviewed Original Research
1998
Stiff-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 ResearchExpression of Amphiphysin I, an Autoantigen of Paraneoplastic Neurological Syndromes, in Breast Cancer
Floyd S, Butler M, Cremona O, David C, Freyberg Z, Zhang X, Solimena M, Tokunaga A, Ishizu H, Tsutsui K, De Camilli P. Expression of Amphiphysin I, an Autoantigen of Paraneoplastic Neurological Syndromes, in Breast Cancer. Molecular Medicine 1998, 4: 29-39. PMID: 9513187, PMCID: PMC2230265, DOI: 10.1007/bf03401727.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAmino Acid SequenceAmino Acid SubstitutionAnimalsAntibodiesAntibodies, MonoclonalAutoantigensAutoimmunityBlotting, WesternBrainBreastBreast NeoplasmsChromatography, AffinityCloning, MolecularFemaleGene ExpressionHumansIsomerismMolecular Sequence DataNerve Tissue ProteinsNervous System DiseasesPolymerase Chain ReactionProtein BiosynthesisRatsStiff-Person SyndromeTumor Cells, CulturedConceptsBreast cancer tissuesBreast cancerCancer tissuesParaneoplastic sensory neuronopathyHuman breast cancer tissuesParaneoplastic neurological syndromesAutoimmune neurological disordersStiff-man syndromeNormal mammary tissueNon-neuronal tissuesAmphiphysin IForms of cancerSensory neuronopathyNeurological syndromeI antibodiesNerve terminalsDominant autoantigenI expressionNeurological disordersMammary tissueCancerAmino acid insertCancer cellsEnhanced expressionKD isoform
1993
Autoantibodies to a 128-kd Synaptic Protein in Three Women with the Stiff-Man Syndrome and Breast Cancer
Folli F, Solimena M, Cofiell R, Austoni M, Tallini G, Fasseta G, Bates D, Cartlidge N, Bottazzo G, Piccolo G, De Camilli P. Autoantibodies to a 128-kd Synaptic Protein in Three Women with the Stiff-Man Syndrome and Breast Cancer. New England Journal Of Medicine 1993, 328: 546-551. PMID: 8381208, DOI: 10.1056/nejm199302253280805.Peer-Reviewed Original ResearchMeSH KeywordsAgedAnimalsAutoantibodiesAutoantigensBlotting, WesternBrainBreast NeoplasmsCarcinoma, Intraductal, NoninfiltratingCerebrospinal FluidFemaleGlutamate DecarboxylaseHumansImmunoenzyme TechniquesMiddle AgedNerve Tissue ProteinsParaneoplastic SyndromesPrecipitin TestsRatsStiff-Person SyndromeSynapsesConceptsStiff-man syndromeBreast cancerNervous systemOrgan-specific autoimmune diseasesInsulin-dependent diabetes mellitusSmall invasive ductal carcinomaNervous system antigensPercent of patientsOccult breast cancerSubgroup of patientsInvasive ductal carcinomaDetection of autoantibodiesCentral nervous systemParaneoplastic originControl patientsDiabetes mellitusThird patientDuctal carcinomaAutoimmune diseasesSystem antigensProgressive rigidityAutoantibodiesCerebrospinal fluidRare diseasePatients
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
Synapsins in the vertebrate retina: Absence from ribbon synapses and heterogeneous distribution among conventional synapses
Mandell J, Townes-Anderson E, Czernik A, Cameron R, Greengard P, De Camilli P. Synapsins in the vertebrate retina: Absence from ribbon synapses and heterogeneous distribution among conventional synapses. Neuron 1990, 5: 19-33. PMID: 2114884, DOI: 10.1016/0896-6273(90)90030-j.Peer-Reviewed Original ResearchConceptsConventional synapsesRibbon synapsesAmacrine cellsBipolar cellsIntrinsic membrane proteinsSynapsin IAdult rat retinaNerve terminal phosphoproteinVertebrate retinaMembrane proteinsNerve terminalsRat retinaVesicle clusteringSalamander retinaSynapse typesSynaptic vesiclesMolecular differencesRetinaRod cellsSynapsesCone cellsSynapsinCellsSynaptophysinPhosphoproteinAutoantibodies to GABA-ergic Neurons and Pancreatic Beta Cells in Stiff-Man Syndrome
Solimena M, Folli F, Aparisi R, Pozza G, De Camilli P. Autoantibodies to GABA-ergic Neurons and Pancreatic Beta Cells in Stiff-Man Syndrome. New England Journal Of Medicine 1990, 322: 1555-1560. PMID: 2135382, DOI: 10.1056/nejm199005313222202.Peer-Reviewed Original ResearchConceptsStiff-man syndromeInsulin-dependent diabetes mellitusGABA-ergic neuronsGlutamic acid decarboxylaseGamma-aminobutyric acidDiabetes mellitusPancreatic beta cellsAutoimmune diseasesBeta cellsOrgan-specific autoimmune diseasesNeurotransmitter gamma-aminobutyric acidPresence of autoantibodiesGroup of patientsCentral nervous systemPrimary autoantigenUnknown pathogenesisRare disorderAutoantibodiesNervous systemSyndromeUseful markerMellitusAcid decarboxylaseStriking associationPatients