2022
ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling
Hancock-Cerutti W, Wu Z, Xu P, Yadavalli N, Leonzino M, Tharkeshwar AK, Ferguson SM, Shadel GS, De Camilli P. ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling. Journal Of Cell Biology 2022, 221: e202106046. PMID: 35657605, PMCID: PMC9170524, DOI: 10.1083/jcb.202106046.Peer-Reviewed Original ResearchConceptsParkinson's diseasePD pathogenesisLeucine-rich repeat kinase 2 (LRRK2) G2019S mutationCGAS-STING pathwayAccumulation of lysosomesDNA-sensing cGAS-STING pathwayImmune activationLipid profileSTING signalingG2019S mutationAutosomal recessive Parkinson's diseaseRecessive Parkinson's diseaseModel human cell linesHuman cell linesCell linesPathogenesisLate endosomes/lysosomesDiseaseVPS13CEndosomes/lysosomesCurrent studyTransfer proteinActivationCellsPathway
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