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
2017
Multifunctional molecule ERp57: From cancer to neurodegenerative diseases
Hettinghouse A, Liu R, Liu C. Multifunctional molecule ERp57: From cancer to neurodegenerative diseases. Pharmacology & Therapeutics 2017, 181: 34-48. PMID: 28723413, PMCID: PMC5743601, DOI: 10.1016/j.pharmthera.2017.07.011.Peer-Reviewed Original ResearchConceptsProtein disulfide isomerase gene familyMultiple cellular localizationsEndoplasmic reticulum localizationDiverse pathological statesGene familyERp57 functionsProtein familyPDI familySubcellular compartmentsPhysiological processesCellular localizationMultifunctional memberERp57Aberrant functionalityNeurodegenerative diseasesTherapeutic developmentPathological statesFamilyLocalizationIsomeraseRedox activityAvailable knowledgeNumerous studiesHostExpression