Featured Publications
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases
Zhao X, Lin Y, Liou B, Fu W, Jian J, Fannin V, Zhang W, Setchell K, Grabowski G, Sun Y, Liu C. PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 120: e2210442120. PMID: 36574647, PMCID: PMC9910439, DOI: 10.1073/pnas.2210442120.Peer-Reviewed Original ResearchConceptsBlood-brain barrierParkinson's diseaseGaucher diseasePGRN deficiencyPD-like phenotypesRelevant mouse modelRare lysosomal storage diseaseCommon neurodegenerative disorderVisceral symptomsNeurobehavioral deficitsSevere neuroinflammationPD pathologyLysosomal storage diseaseTherapeutic studiesMouse modelNeuronopathic involvementProgranulinImpaired autophagyNeurodegenerative disordersGD phenotypeEarly onsetMiceDiseaseFirst linePathologyAssociation 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