Featured Publications
Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease
Jian J, Tian Q, Hettinghouse A, Zhao S, Liu H, Wei J, Grunig G, Zhang W, Setchell K, Sun Y, Overkleeft H, Chan G, Liu C. Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease. EBioMedicine 2016, 13: 212-224. PMID: 27789271, PMCID: PMC5264254, DOI: 10.1016/j.ebiom.2016.10.010.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell LineDisease Models, AnimalFibroblastsGaucher DiseaseGlucosylceramidaseHSP70 Heat-Shock ProteinsHumansIntercellular Signaling Peptides and ProteinsLysosome-Associated Membrane GlycoproteinsLysosomesMiceMice, KnockoutPhenotypeProgranulinsProtein AggregatesProtein BindingRecombinant ProteinsStress, PhysiologicalConceptsGaucher diseaseLysosomal storage diseaseStorage diseaseCommon lysosomal storage diseaseNew therapeutic interventionsΒ-glucocerebrosidaseProgranulin insufficiencyAnimal modelsTherapeutic interventionsDiseasePGRNDisease phenotypePatient fibroblastsGCaseComplex-associated proteinsLysosomal localizationHSP70DeficiencyAssociation Between Progranulin and Gaucher Disease
Jian J, Zhao S, Tian QY, Liu H, Zhao Y, Chen WC, Grunig G, Torres PA, Wang BC, Zeng B, Pastores G, Tang W, Sun Y, Grabowski GA, Kong MX, Wang G, Chen Y, Liang F, Overkleeft HS, Saunders-Pullman R, Chan GL, Liu CJ. Association Between Progranulin and Gaucher Disease. EBioMedicine 2016, 11: 127-137. PMID: 27515686, PMCID: PMC5049935, DOI: 10.1016/j.ebiom.2016.08.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAllelesAnimalsCase-Control StudiesDisease Models, AnimalEnzyme ActivationFemaleGaucher DiseaseGene FrequencyGenetic Association StudiesGenotypeHumansIntercellular Signaling Peptides and ProteinsLysosomesMaleMiceMice, KnockoutMiddle AgedMutationPhenotypePolymorphism, Single NucleotideProgranulinsProtein TransportConceptsGD patientsHealthy controlsGaucher diseaseGRN genePGRN KO miceSerum PGRN levelsPGRN-deficient miceHealthy control samplesSerum levelsPGRN levelsGaucher-like cellsKO miceTherapeutic effectRecombinant PGRNGeneral populationPatientsAnimal modelsBone marrowGBA1 geneLysosomal localizationProgranulin geneNull micePGRNDiseaseMice
2018
Molecular regulations and therapeutic targets of Gaucher disease
Chen Y, Sud N, Hettinghouse A, Liu C. Molecular regulations and therapeutic targets of Gaucher disease. Cytokine & Growth Factor Reviews 2018, 41: 65-74. PMID: 29699937, PMCID: PMC8108120, DOI: 10.1016/j.cytogfr.2018.04.003.Peer-Reviewed Original ResearchConceptsGaucher diseaseHeat shock proteinsProper foldingMolecular regulationActivity of GCaseLysosomal localizationShock proteinsCommon lysosomal storage diseaseLysosomal appearanceIon channelsCalcium ion channelsLysosomal accumulationSaposin CLysosomal storage diseaseSubstrate glucosylceramideInflammatory mediatorsProinflammatory moleculesNew targetsPathogenic mechanismsTherapeutic targetGCaseNovel moleculesSmall moleculesDiseaseStorage disease