2024
Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease
Lin Y, Zhao X, Liou B, Fannin V, Zhang W, Setchell K, Wang X, Pan D, Grabowski G, Liu C, Sun Y. Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease. Human Molecular Genetics 2024, 33: 1771-1788. PMID: 39101473, PMCID: PMC11458007, DOI: 10.1093/hmg/ddae113.Peer-Reviewed Original ResearchGaucher diseaseMutation dosageMouse modelDisease severityProgrammed cell deathRetinal gliosisBrain transcriptomic analysisGD pathogenesisPGRN deficiencyTissue fibrosisDisease progressionGrn-/- miceSevere phenotypeGlycosphingolipid accumulationTranscriptome analysisInflammatory responseGCase functionMiceCell deathShort life spanNeurobehavioral analysisDiseaseGCase activityNeurodegenerative diseasesPGRN
2018
Brain-penetrant heat shock protein amplifier arimoclomol enhances GCase activity in in vitro Gaucher disease models
Hettinghouse A, Liu C. Brain-penetrant heat shock protein amplifier arimoclomol enhances GCase activity in in vitro Gaucher disease models. EBioMedicine 2018, 38: 7-8. PMID: 30522930, PMCID: PMC6306393, DOI: 10.1016/j.ebiom.2018.11.052.Peer-Reviewed Original Research