Ruby Yang, CCRC
Research AssociateCards
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Research
Publications
2025
Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy
Ain N, Saith A, Ruan A, Yang R, Burton A, Mistry P. Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy. Frontiers In Medicine 2025, 12: 1535099. PMID: 40166071, PMCID: PMC11956841, DOI: 10.3389/fmed.2025.1535099.Peer-Reviewed Original ResearchCardiac comorbiditiesSubstrate reduction therapyDrug-drug interactionsCardiac safetyClinically significant cardiac eventsGaucher diseaseSevere pulmonary arterial hypertensionStandard cardiac evaluationMedian treatment durationCYP2D6 metabolizer statusProlonged QTc intervalWolff-Parkinson-White syndromeSingle-center experiencePulmonary arterial hypertensionRight heart strainMitral annular calcificationSignificant cardiac eventsPotential drug-drug interactionsPremature ventricular complexesArrhythmia-related symptomsType 1 Gaucher diseaseInhibit ion channelsPharmacogenomics guidelinesLysosomal storage disorderDiastolic dysfunctionEliglustat substrate reduction therapy in children with Gaucher disease type 1
Ain N, Saith A, Ruan A, Yang R, Burton A, Mistry P. Eliglustat substrate reduction therapy in children with Gaucher disease type 1. Frontiers In Pediatrics 2025, 13: 1543136. PMID: 40083427, PMCID: PMC11903696, DOI: 10.3389/fped.2025.1543136.Peer-Reviewed Original ResearchEnzyme replacement therapySubstrate reduction therapyGD1 patientsPediatric patientsReduction therapyOral substrate reduction therapyPrimary outcomeAlternative to enzyme replacement therapyIntravenous enzyme replacement therapyLevels compared to baselineGaucher disease type 1Indicator of disease activityParent-reported qualityCYP2D6 metabolizer statusRare lysosomal storage disorderProspective case seriesGaucher diseaseType 1 Gaucher diseaseQuality of lifeDisease indicationsLysosomal storage disorderPROMIS questionnairesReplacement therapyCase seriesClinical benefit
2020
Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data
Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarere J, Berger MG. Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica 2020, 106: 437-445. PMID: 32001533, PMCID: PMC7849573, DOI: 10.3324/haematol.2019.236083.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsIndividual participant dataCCL18 concentrationsChitotriosidase activityPrimary outcomeSystematic reviewParticipant dataProspective cohort studyEligible primary studiesPrimary studiesDisease activityBone eventsCohort studyPlatelet countGD patientsSpleen volumeLiver volumeClinical assessmentVisceral parametersGD severityPatientsHemoglobin concentrationRoutine practiceDisease severityLimited sample sizeGD activity
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 analysisGaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World Journal Of Clinical Cases 2019, 7: 1475-1482. PMID: 31363476, PMCID: PMC6656677, DOI: 10.12998/wjcc.v7.i12.1475.Peer-Reviewed Original ResearchEnzyme replacement therapyGaucher diseaseType 1 Gaucher diseaseDeposition of glucocerebrosideGene mutationsCommon lysosomal storage disorderBone mineral densityErlenmeyer flask deformityBone painAbdominal painLysosomal storage disorderReplacement therapyMineral densityVisceral parametersDistal femurPatientsSignificant progressionClinical phenotypeSystem cellsBiallelic mutationsStorage disorderLysosomal glucocerebrosidasePainPhenotype correlationSymptoms
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 mechanismsGlucosylsphingosine 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
2014
Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation
Nair S, Boddupalli CS, Verma R, Liu J, Yang R, Pastores GM, Mistry PK, Dhodapkar MV. Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation. Blood 2014, 125: 1256-1271. PMID: 25499455, PMCID: PMC4335081, DOI: 10.1182/blood-2014-09-600270.Peer-Reviewed Original ResearchConceptsI NKT cellsNKT cellsB cell activationT cellsB cellsTetramer-positive T cellsType II natural killer T cellsT cell receptor usageType I NKT cellsType II NKT cellsNatural killer T cellsFollicular helper phenotypeGD mouse modelMetabolic lipid disordersKiller T cellsB cell immunityGerminal center B cellsB-cell malignanciesAntilipid antibodiesDisease activityCytokine profileChronic inflammationHelper phenotypeHumoral immunityCognate helpGlucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 4934-4939. PMID: 24639522, PMCID: PMC3977292, DOI: 10.1073/pnas.1400768111.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseBone formation defectGaucher diseaseSerum ceramide levelsBone formation rateEnzyme replacement therapyViable therapeutic targetGD1 patientsGBA deficiencyEnhanced elevationTherapeutic targetBone volumeMononuclear phagocytesClinical phenotypeGBA geneConditional deletionBioactive lipidsSphingosine levelsDevelopment of inhibitorsCeramide levelsLysosomal glucocerebrosidasePatientsNanomolar concentrationsDiseaseMice
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
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