2024
VavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis
Nair S, Belinsky G, Mistry P. VavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis. Molecular Genetics And Metabolism 2024, 141: 107978. DOI: 10.1016/j.ymgme.2023.107978.Peer-Reviewed Original Research
2020
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Monoclonal gammopathyAntigenic targetsClonal immunoglobulinDisease type 1B cell activationAccumulation of glucosylceramideGD1 patientsImmunogenic lipidsMetabolic inflammationMultiple myelomaGD patientsHigh riskTarget antigenCell activationImmunoglobulin typeGammopathyType 1PatientsGenetic deficiencyAge-related phenotypesSaposin CClonal IgLysosomal glucocerebrosidaseGlcSph
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