2014
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 4934-4939. PMID: 24639522, PMCID: PMC3977292, DOI: 10.1073/pnas.1400768111.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseBone formation defectGaucher diseaseSerum ceramide levelsBone formation rateEnzyme replacement therapyViable therapeutic targetGD1 patientsGBA deficiencyEnhanced elevationTherapeutic targetBone volumeMononuclear phagocytesClinical phenotypeGBA geneConditional deletionBioactive lipidsSphingosine levelsDevelopment of inhibitorsCeramide levelsLysosomal glucocerebrosidasePatientsNanomolar concentrationsDiseaseMice
2012
Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice
Yuen T, Iqbal J, Zhu LL, Sun L, Lin A, Zhao H, Liu J, Mistry PK, Zaidi M. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochemical And Biophysical Research Communications 2012, 422: 573-577. PMID: 22588172, PMCID: PMC3377787, DOI: 10.1016/j.bbrc.2012.05.027.Peer-Reviewed Original ResearchConceptsMacrophage-directed therapiesConnectivity mappingAutoimmune diathesisDisease miceImmune cellsNew agentsMice resultsLiver cellsGlucocerebrosidase geneDrug pairsInstitute databaseDisease phenotypeMiceDisease-drug pairsDiverse populationsCMAPCellsGammopathyDysfunctionTherapyDiathesisFuture testingAlbendazoleDisease
2010
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 19473-19478. PMID: 20962279, PMCID: PMC2984187, DOI: 10.1073/pnas.1003308107.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseThymic T cellsGene-deficient miceOsteoblastic bone formationWorthwhile therapeutic targetDendritic cellsSevere osteoporosisAutoimmune diseasesWidespread dysfunctionCytokine measurementsT cellsCell lineagesParkinson's diseaseTherapeutic targetGBA1 geneMononuclear phagocytesGaucher diseaseGlucocerebrosidase deficiencyMolecular dysregulationDiseaseInhibitory effectBone formationMultiple cell lineagesMesenchymal cell lineagesMacrophages
1996
The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide
Byrne CD, Wareham NJ, Mistry PK, Phillips D, Martensz ND, Halsall D, Talmud PJ, Humphries SE, Hales CN. The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide. Atherosclerosis 1996, 127: 35-42. PMID: 9006802, DOI: 10.1016/s0021-9150(96)05932-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedApolipoproteins BBiological TransportChylomicronsDNAFatty Acids, NonesterifiedGene DeletionGenotypeHumansImmunoradiometric AssayLipoproteins, VLDLMaleMiddle AgedMyocardial IschemiaPolymerase Chain ReactionPolymorphism, GeneticPostprandial PeriodPrevalenceProtein Sorting SignalsReference ValuesTriglyceridesUltracentrifugationConceptsIschemic heart diseaseFat tolerance testApo B signal peptideFFA concentrationsTolerance testFree fatty acid responsesLower HDL-cholesterol concentrationsFree fatty acid concentrationsHDL cholesterol concentrationsTriglyceride-rich lipoprotein concentrationsHealthy Caucasian menApo B signal peptide genotypesTriglyceride-rich lipoproteinsPost-prandial stateYears of ageFatty acid responsesOnly significant determinantCaucasian manLipoprotein concentrationsFatty acid concentrationsHeart diseaseCholesterol concentrationsSignificant associationGenotype groupsCommon deletion polymorphism