2000
Autoimmunity to Gephyrin in Stiff-Man Syndrome
Butler M, Hayashi A, Ohkoshi N, Villmann C, Becker C, Feng G, De Camilli P, Solimena M. Autoimmunity to Gephyrin in Stiff-Man Syndrome. Neuron 2000, 26: 307-312. PMID: 10839351, DOI: 10.1016/s0896-6273(00)81165-4.Peer-Reviewed Original ResearchConceptsStiff-man syndromeGlutamic acid decarboxylaseCentral nervous systemInhibitory synapsesEnzyme glutamic acid decarboxylaseHigh-titer autoantibodiesSubset of casesParaneoplastic originClinical featuresSynaptic antigensMediastinal cancerNeurological conditionsRare diseaseGlycine receptorsNervous systemAcid decarboxylaseAutoimmunityPostsynaptic membraneGephyrinSpasmSyndromeSynapsesAutoantibodiesPatientsGABA
1999
Amphiphysin and Breast Cancer
DeCamilli P. Amphiphysin and Breast Cancer. 1999 DOI: 10.21236/ada383728.Peer-Reviewed Original ResearchBreast cancerWestern blottingStiff-man syndromeBreast cancer patientsBreast cancer cell linesLarge case loadsNon-neuronal tissuesOccult neoplasiaCancer cell linesCancer patientsNerve terminal proteinLow-level expressionBreast tumorsNeurological diseasesAutoantibodiesPatientsCancerAmphiphysin ICase loadRT-PCREnhanced expressionCell linesIntracellular signalingBlottingCyclin-dependent kinase gene family
1998
Amphiphysin and Breast Cancer
DeCamilli P. Amphiphysin and Breast Cancer. 1998 DOI: 10.21236/ada363483.Peer-Reviewed Original ResearchStiff-man syndromeBreast cancerNeuronal proteinsAutoimmune paraneoplastic syndromeBreast cancer patientsHuman breast cancer cell linesBreast cancer cell linesCentral nervous systemRole of amphiphysinCancer cell linesParaneoplastic syndromeCancer patientsNew patientsEarly diagnosisProgressive rigidityRare diseaseNervous systemNeurological diseasesAutoimmunityPatientsDiagnostic proceduresCancerSyndromeCancer cellsKinase Cdk5Stiff-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
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
1994
Autoimmunity in Stiff‐Man Syndrome with breast cancer is targeted to the C‐terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161
David C, Solimena M, De Camilli P. Autoimmunity in Stiff‐Man Syndrome with breast cancer is targeted to the C‐terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161. FEBS Letters 1994, 351: 73-79. PMID: 8076697, DOI: 10.1016/0014-5793(94)00826-4.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsAutoantibodiesBase SequenceBreast NeoplasmsChickensCloning, MolecularCytoskeletal ProteinsFungal ProteinsHumansMicrofilament ProteinsMolecular Sequence DataNerve Tissue ProteinsOligodeoxyribonucleotidesSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsSequence Homology, Amino AcidStiff-Person SyndromeConceptsC-terminal regionStiff-man syndromeYeast proteinsUnfavourable growth conditionsBreast cancerSH3 domainTerminal domainAmphiphysinNeuronal proteinsRvs167Rvs161ProteinCell entryPatient autoantibodiesGrowth conditionsSynaptic membranesSyndromeCancerDistinct patternsStationary phaseDomainChickensAutoantibodiesAutoimmunityAutoantigens
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
Autoimmunity to glutamic acid decarboxylase (GAD) in stiffman syndrome and insulin-dependent diabetes mellitus
Solimena M, De Camilli P. Autoimmunity to glutamic acid decarboxylase (GAD) in stiffman syndrome and insulin-dependent diabetes mellitus. Trends In Neurosciences 1991, 14: 452-457. PMID: 1722364, DOI: 10.1016/0166-2236(91)90044-u.Peer-Reviewed Original ResearchConceptsInsulin-dependent diabetes mellitusStiff-man syndromeGlutamic acid decarboxylaseDiabetes mellitusAcid decarboxylaseEnzyme glutamic acid decarboxylaseMain inhibitory neurotransmitterStiffman syndromeAutoimmune targetGABAergic neurotransmissionAutoimmune responseAutoimmune diseasesInhibitory neurotransmitterBeta cellsMellitusBody musculatureSyndromeGABAPutative signal moleculesPossible significanceAutoantibodiesAutoimmunityDecarboxylaseNeurotransmissionCNSSudden 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
Autoantibodies 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 associationPatients36 Autoantibodies directed against GABA-ergic synapses in a second case of stiff-man syndrome and epilepsy
SOLIMENA M, FOLLI F, MORELLO F, TOSO V, DE CAMILLI P. 36 Autoantibodies directed against GABA-ergic synapses in a second case of stiff-man syndrome and epilepsy. 1990, 415-422. DOI: 10.1016/b978-0-12-089445-1.50040-0.Peer-Reviewed Original Research