2016
Glucosylsphingosine is a key biomarker of Gaucher disease
Murugesan V, Chuang W, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. American Journal Of Hematology 2016, 91: 1082-1089. PMID: 27441734, PMCID: PMC5234703, DOI: 10.1002/ajh.24491.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyLyso-GL1GD type 1Gaucher diseasePropensity scoreUntreated GD patientsWilcoxon Mann-Whitney testAccumulation of glucosylceramideMann-Whitney testTreatment modeImmune dysregulationCCL18 levelsReplacement therapyGD patientsHealthy controlsPropensity scoringPatientsSkeletal diseaseType 1Comparable groupsMarked reductionMultiple linear regressionSignificant predictorsKey biomarkersLinear regression
2013
Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism
Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism. Critical Reviews™ In Oncogenesis 2013, 18: 235-246. PMID: 23510066, PMCID: PMC4437216, DOI: 10.1615/critrevoncog.2013006145.BooksConceptsEnzyme replacement therapyCancer riskGaucher diseaseMacrophage-targeted enzyme replacement therapyChronic B-cell stimulationCancer pathogenesisType 1 Gaucher diseaseSubset of patientsT cell dysfunctionNon-hematological malignanciesOverall cancer riskRisk of cancerNovel therapeutic targetPolarization of macrophagesDeterminant of malignancyB cell stimulationAccumulation of glucosylceramideEndoplasmic reticulum stressLysosomal storage disorderImmune dysregulationChronic inflammationIncreased prevalenceReplacement therapyMultiple myelomaConsecutive cancers
2012
Gaucher disease gene GBA functions in immune regulation
Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK. Gaucher disease gene GBA functions in immune regulation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 10018-10023. PMID: 22665763, PMCID: PMC3382552, DOI: 10.1073/pnas.1200941109.Peer-Reviewed Original ResearchConceptsGaucher diseaseHematopoietic stem cellsImmune regulationDisease severityGBA geneWidespread immune dysregulationB cell recruitmentPeripheral lymphoid organsT cell maturationLyso-GL1Immune dysregulationT helperImmune defectsTh2 cytokinesEarly thymic progenitorsLymphoid organsAntigen presentationGBA deficiencyGBA mutationsSevere diseaseClassic manifestationsClinical observationsGCase deficiencyBone marrowMature thymocytes