2017
Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons
Cao M, Wu Y, Ashrafi G, McCartney AJ, Wheeler H, Bushong EA, Boassa D, Ellisman MH, Ryan TA, De Camilli P. Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons. Neuron 2017, 93: 882-896.e5. PMID: 28231468, PMCID: PMC5340420, DOI: 10.1016/j.neuron.2017.01.019.Peer-Reviewed Original ResearchConceptsDopaminergic axonsEarly-onset parkinsonism patientsEndocytic dysfunctionNeurological manifestationsParkinsonism patientsDystrophic changesParkinson's diseaseDorsal striatumHuman patientsClathrin-coated intermediatesParkin levelsHomozygous mutationMutant brainsSynaptojanin 1Domain mutationsTerminal changesPatientsStriking accumulationAxonsDiseaseMiceSynapsesSynaptic vesicle endocytosisMutationsDysfunction
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