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
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
1995
Targeting of the 67-kDa Isoform of Glutamic Acid Decarboxylase to Intracellular Organelles Is Mediated by Its Interaction with the NH2-terminal Region of the 65-kDa Isoform of Glutamic Acid Decarboxylase (∗)
Dirkx R, Thomas A, Li L, Lernmark Å, Sherwin R, De Camilli P, Solimena M. Targeting of the 67-kDa Isoform of Glutamic Acid Decarboxylase to Intracellular Organelles Is Mediated by Its Interaction with the NH2-terminal Region of the 65-kDa Isoform of Glutamic Acid Decarboxylase (∗). Journal Of Biological Chemistry 1995, 270: 2241-2246. PMID: 7836456, DOI: 10.1074/jbc.270.5.2241.Peer-Reviewed Original ResearchConceptsGolgi complex regionNH2-terminal regionGlutamic acid decarboxylaseAbsence of palmitoylationSoluble cytosolic proteinsAcid decarboxylaseRegions of GAD65Cytosolic proteinsNeurotransmitter gamma-aminobutyric acidDetergent phasePerinuclear regionExtracts of brainIntracellular distributionGamma-aminobutyric acidPellet fractionComplex regionIsoformsProteinFibroblastsGAD67GAD65DecarboxylaseTriton XPalmitoylationNeurons
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 significanceAutoantibodiesAutoimmunityDecarboxylaseNeurotransmissionCNS
1990
Glutamic acid decarboxylase (GAD) is colocalized with markers of synaptic-like microvesicles in pancreatic β-cells
Reetz A, Solimena M, Folli F, Takei K, De Camilli P. Glutamic acid decarboxylase (GAD) is colocalized with markers of synaptic-like microvesicles in pancreatic β-cells. Cell Biology International 1990, 14: 52. DOI: 10.1016/0309-1651(90)90314-o.Peer-Reviewed Original ResearchAutoantibodies 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