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 screenClinical course and prognosis in patients with Gaucher disease and parkinsonism
Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurology Genetics 2016, 2: &na;. PMID: 27123476, PMCID: PMC4830189, DOI: 10.1212/nxg.0000000000000057.Peer-Reviewed Original ResearchClinical courseGaucher diseaseParkinson's diseaseOnset of parkinsonismRetrospective observational studyIdiopathic Parkinson's diseaseReliable prognostic indicatorMild cognitive dysfunctionLevodopa responseParkinsonian symptomsLewy bodiesOlfactory testingPrognostic indicatorClinical centersCognitive dysfunctionClinical dataFamily historyObservational studyGBA1 mutationsAggressive formParkinsonian phenotypeNeurocognitive evaluationParkinsonismPatientsSlow course