2019
Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease
Afinogenova Y, Ruan J, Yang R, Kleytman N, Pastores G, Lischuk A, Mistry PK. Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. Molecular Genetics And Metabolism 2019, 128: 62-67. PMID: 31358474, PMCID: PMC6864269, DOI: 10.1016/j.ymgme.2019.07.014.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher disease patientsYKL-40 levelsYKL-40Replacement therapyDisease patientsGaucher diseaseBone involvementHealthy controlsProgranulin levelsLong-term enzyme replacement therapyHigh serum YKL-40Cathepsin DSerum YKL-40 levelsGaucher disease mouse modelContribution of fibrosisLower progranulin levelsSerum YKL-40Chemokine ligand 18Disease mouse modelSevere bone involvementCathepsin SPersistent splenomegalyResidual splenomegalyGene array analysis
2016
Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease
Murugesan V, Liu J, Yang R, Lin H, Lischuk A, Pastores G, Zhang X, Chuang WL, Mistry PK. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. Blood Cells Molecules And Diseases 2016, 68: 47-53. PMID: 28003098, PMCID: PMC5468511, DOI: 10.1016/j.bcmd.2016.12.002.Peer-Reviewed Original ResearchConceptsGaucher diseaseSerum levelsMelanoma BImiglucerase enzyme replacement therapyCohort of patientsEnzyme replacement therapyOverall disease severityGPNMB levelsDisease activityUntreated patientsReplacement therapyDisease miceDisease progressionIndividual patientsLarge cohortHematological diseasesStriking elevationPatientsNew biomarkersDisease pathophysiologyDisease severityDiseaseOrgan compartmentsBiomarkersDisease mechanisms
2010
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 291-300. PMID: 20354791, PMCID: PMC3008397, DOI: 10.1007/s10545-010-9070-1.Peer-Reviewed Original ResearchConceptsPrevalence of gallstonesType 1 Gaucher diseaseBody mass indexBile lipid analysisGaucher diseaseLipoprotein cholesterolHigh low-density lipoprotein cholesterolLow high-density lipoprotein cholesterolHigh-density lipoprotein cholesterolLow-density lipoprotein cholesterolMultiple logistic regression analysisType 1 Gaucher's diseaseBile lipid compositionBiliary lipid secretionCholesterol gallstone diseaseLogistic regression analysisMetabolic syndromeGallstone diseaseLDL cholesterolStudy cohortLipoprotein profileMass indexFemale sexBile compositionBiliary lipidsThe risk of Parkinson's disease in type 1 Gaucher disease
Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK. The risk of Parkinson's disease in type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 167-173. PMID: 20177787, PMCID: PMC2887303, DOI: 10.1007/s10545-010-9055-0.Peer-Reviewed Original ResearchConceptsParkinson's diseaseGeneral populationGaucher diseaseRisk of PDType 1 Gaucher diseaseType 1 Gaucher's diseaseIdiopathic Parkinson's diseaseLife-time riskFirst-degree relativesParkinson's disease phenotypeLife-threatening diseaseDisease phenotypeGenetic risk factorsMagnitude of riskAvascular osteonecrosisClinical spectrumParkinsonian syndromesRisk ratioSeverity scoreRisk factorsDegree relativesHigh riskHigh incidencePD phenotypePatients
2002
Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy
Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Molecular Genetics And Metabolism 2002, 77: 91-98. PMID: 12359135, DOI: 10.1016/s1096-7192(02)00122-1.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseSevere pulmonary hypertensionLife-threatening pulmonary hypertensionRight ventricular systolic pressurePulmonary hypertensionGaucher diseaseAsymptomatic pulmonary hypertensionCharacteristics of patientsHigh-risk patientsVentricular systolic pressureEnzyme gene polymorphismACE I alleleAdditional genetic factorsLung transplantationUntreated patientsTransplant candidatesConsecutive patientsSystolic pressureTertiary referralDoppler echocardiographyReplacement therapyClinical spectrumPoor complianceGD patientsGBA mutationsEffectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. The American Journal Of Medicine 2002, 113: 112-119. PMID: 12133749, DOI: 10.1016/s0002-9343(02)01150-6.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolCohort StudiesDose-Response Relationship, DrugDrug Administration ScheduleFemaleFollow-Up StudiesGaucher DiseaseGlucosylceramidaseHemoglobinsHumansInfusions, IntravenousLiverMalePain MeasurementPlatelet CountRegistriesRisk AssessmentSpleenStatistics, NonparametricTime FactorsTreatment OutcomeConceptsType 1 Gaucher diseaseYears of treatmentEnzyme replacement therapyBone crisesBone painPlatelet countGaucher diseaseGaucher RegistryReplacement therapyMacrophage-targeted enzyme replacement therapyHemoglobin concentrationShort-term efficacyNormal platelet countFirst lysosomal storage disorderAssessment of responseTimes normal sizeBaseline thrombocytopeniaLysosomal storage disorderAnemic patientsSpleen volumeThrombocytopenic patientsSustained responseIntact spleenSerial measurementsPatients