Gaucher disease: Progress and ongoing challenges
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Molecular Genetics And Metabolism 2016, 120: 8-21. PMID: 27916601, PMCID: PMC5425955, DOI: 10.1016/j.ymgme.2016.11.006.Peer-Reviewed Original ResearchConceptsGaucher diseaseFirst mutant allelePluripotent stem cell modelsInduced Pluripotent Stem Cell ModelStem cell modelImportant risk factorHigh-throughput screenEnzyme replacement therapyNational InstituteLysosomal enzyme glucocerebrosidaseRecombinant productionReplacement therapyMutant allelesClinical centersRisk factorsMouse modelThroughput screen