Ruby Yang, CCRC
Research AssociateCards
About
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 ResearchEliglustat 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 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 Reviews, Practice Guidelines, Standards, and Consensus Statements
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 ResearchGaucher 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 Research
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 ResearchGlucosylsphingosine 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 Research
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 ResearchGlucocerebrosidase 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 Research
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 Research
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