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 ResearchMeSH KeywordsAnimalsEnzyme Replacement TherapyGaucher DiseaseGenetic TherapyGlucosylceramidaseHistory, 20th CenturyHistory, 21st CenturyHumansMiceMutationNational Institutes of Health (U.S.)Small Molecule LibrariesUnited StatesConceptsGaucher 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