2022
A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane
Guillén-Samander A, Wu Y, Pineda SS, García FJ, Eisen JN, Leonzino M, Ugur B, Kellis M, Heiman M, De Camilli P. A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 119: e2205425119. PMID: 35994651, PMCID: PMC9436381, DOI: 10.1073/pnas.2205425119.Peer-Reviewed Original ResearchConceptsCaudate neuronsClinical manifestationsExposure of PtdSerPH domainMcLeod syndromeCell surface exposureER-PM contactsLipid dropletsTransport of lipidsPutative roleUnknown mechanismNeuronsLipid transfer proteinVPS13ALipid scramblasesTransfer proteinCytosolic loopExposurePlasma membraneCell surfaceEndoplasmic reticulumLipid transferERSyndromeDisease
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
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
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 Research
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
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
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