Ruby Yang, CCRC
Research AssociateCards
About
Research
Publications
2026
Gaucher disease therapy mitigates monoclonal gammopathy: Clinical outcomes and glucosylsphingosine trajectories
Ain N, Yang R, Klinger K, Nair S, Mistry P. Gaucher disease therapy mitigates monoclonal gammopathy: Clinical outcomes and glucosylsphingosine trajectories. Molecular Genetics And Metabolism 2026, 147: 109303. DOI: 10.1016/j.ymgme.2025.109303.Peer-Reviewed Original Research
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
2024
Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease
Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease. Molecular Genetics And Metabolism 2024, 141: 108027. DOI: 10.1016/j.ymgme.2023.108027.Peer-Reviewed Original ResearchEliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities
Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities. Molecular Genetics And Metabolism 2024, 141: 108025. DOI: 10.1016/j.ymgme.2023.108025.Peer-Reviewed Original Research
2023
Osteonecrosis in the era of Gaucher disease therapies
Basiri M, Ruan J, Belinsky G, Yang R, Guo L, Klinger K, Mistry P. Osteonecrosis in the era of Gaucher disease therapies. Molecular Genetics And Metabolism 2023, 138: 107020. DOI: 10.1016/j.ymgme.2022.107020.Peer-Reviewed Original Research
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 Original ResearchConceptsIndividual 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 mechanisms
News
News
Get In Touch
Contacts
Email