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
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
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 ResearchMeSH KeywordsAnimalsAutoimmune DiseasesDiabetes Mellitus, Type 1Glutamate DecarboxylaseHumansStiff-Person SyndromeConceptsInsulin-dependent diabetes mellitusStiff-man syndromeGlutamic acid decarboxylaseDiabetes mellitusAcid decarboxylaseEnzyme glutamic acid decarboxylaseMain inhibitory neurotransmitterStiffman syndromeAutoimmune targetGABAergic neurotransmissionAutoimmune responseAutoimmune diseasesInhibitory neurotransmitterBeta cellsMellitusBody musculatureSyndromeGABAPutative signal moleculesPossible significanceAutoantibodiesAutoimmunityDecarboxylaseNeurotransmissionCNS