2022
SEMA7AR148W mutation promotes lipid accumulation and NAFLD progression via increased localization on the hepatocyte surface
Zhao N, Zhang X, Ding J, Pan Q, Zheng MH, Liu WY, Luo G, Qu J, Li M, Li L, Cheng Y, Peng Y, Xie Q, Wei Q, Li Q, Zou L, Ouyang X, Cai SY, Boyer JL, Chai J. SEMA7AR148W mutation promotes lipid accumulation and NAFLD progression via increased localization on the hepatocyte surface. JCI Insight 2022, 7: e154113. PMID: 35938531, PMCID: PMC9462498, DOI: 10.1172/jci.insight.154113.Peer-Reviewed Original ResearchConceptsIntegrin β1Lipid accumulationPrimary mouse hepatocytesProtein interactionsLipid droplet accumulationMouse liverFatty acid oxidationHeterozygous mutationsIntegrin β1 proteinPKC-α phosphorylationFA uptakeGenetic determinantsMouse peritoneal macrophagesCell membraneStrong genetic determinantsMutationsMouse hepatocytesDroplet accumulationΒ1 proteinCD36 expressionAcid oxidationPKCTriglyceride synthesisGenetic polymorphismsAccumulation
2020
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea
Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson‐Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 2020, 71: 1879-1882. PMID: 31863603, PMCID: PMC8577800, DOI: 10.1002/hep.31087.Peer-Reviewed Original Research
2016
A Novel Di-Leucine Motif at the N-Terminus of Human Organic Solute Transporter Beta Is Essential for Protein Association and Membrane Localization
Xu S, Soroka CJ, Sun AQ, Backos DS, Mennone A, Suchy FJ, Boyer JL. A Novel Di-Leucine Motif at the N-Terminus of Human Organic Solute Transporter Beta Is Essential for Protein Association and Membrane Localization. PLOS ONE 2016, 11: e0158269. PMID: 27351185, PMCID: PMC4924846, DOI: 10.1371/journal.pone.0158269.Peer-Reviewed Original ResearchConceptsMembrane localizationAlpha subunitBeta subunitDileucine motifPlasma membrane localizationDi-leucine motifExtracellular N-terminal regionCo-immunoprecipitation studiesBasolateral membrane localizationN-terminal regionSite-directed mutagenesisAA mutantProtein associationBeta mutantsN-terminusMultiple speciesPhysical associationMembrane biotinylationHEK293 cellsSubunitsAA mutationsMembrane expressionAlpha/betaMutantsMotif
2013
Biosynthesis and trafficking of the bile salt export pump, BSEP: Therapeutic implications of BSEP mutations
Soroka CJ, Boyer JL. Biosynthesis and trafficking of the bile salt export pump, BSEP: Therapeutic implications of BSEP mutations. Molecular Aspects Of Medicine 2013, 37: 3-14. PMID: 23685087, PMCID: PMC3784619, DOI: 10.1016/j.mam.2013.05.001.Peer-Reviewed Original ResearchConceptsBenign recurrent intrahepatic cholestasis type 2Progressive familial intrahepatic cholestasis type 2Cell biological aspectsBile salt export pumpTranslational regulationCell biologyMembrane transportersPrimary transporterBile salt-dependent bile flowType 2Bile acidsRate-limiting stepExport pumpDrug-induced cholestasisBiological aspectsBiosynthesisTraffickingTransportersBSEP mutationsMutationsCholestatic diseaseIntrahepatic cholestasisBile flowBiliary systemEnterohepatic circulation
2010
The Bile Salt Export Pump: Clinical and Experimental Aspects of Genetic and Acquired Cholestatic Liver Disease
Lam P, Soroka C, Boyer J. The Bile Salt Export Pump: Clinical and Experimental Aspects of Genetic and Acquired Cholestatic Liver Disease. Seminars In Liver Disease 2010, 30: 125-133. PMID: 20422495, PMCID: PMC3008346, DOI: 10.1055/s-0030-1253222.Peer-Reviewed Original ResearchConceptsBenign recurrent intrahepatic cholestasis type 2Progressive familial intrahepatic cholestasis type 2Bile salt export pumpDrug-induced cholestasisType 2Export pumpCholestatic liver diseaseBile salt secretionForms of cholestasisDifferent genetic formsLiver diseaseCholestatic disordersIntrahepatic cholestasisBSEP expressionPathophysiologic processesBSEP deficiencyAnimal modelsCholestasisGenetic formsBile saltsSalt secretionMolecular characteristicsPivotal roleCell culturesPrimary transporter
2001
Bile salt export pump is highly conserved during vertebrate evolution and its expression is inhibited by PFIC type II mutations
Cai S, Wang L, Ballatori N, Boyer J. Bile salt export pump is highly conserved during vertebrate evolution and its expression is inhibited by PFIC type II mutations. AJP Gastrointestinal And Liver Physiology 2001, 281: g316-g322. PMID: 11447010, DOI: 10.1152/ajpgi.2001.281.2.g316.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsATP Binding Cassette Transporter, Subfamily B, Member 11ATP-Binding Cassette TransportersBiological TransportCholestasis, IntrahepaticCloning, MolecularConserved SequenceEvolution, MolecularHumansLiverMolecular Sequence DataMutationPhylogenyRNA, MessengerSequence Homology, Amino AcidSkates, FishSpodopteraTaurocholic AcidTransfectionConceptsSf9 cellsATP-dependent transport proteinsFull-length cloneATP-dependent export pumpLiver cDNA libraryNorthern blot analysisStructure-function relationshipsVertebrate evolutionEvolutionary originHuman BSEPBile salt export pump BSEPMutant proteinsSkate Raja erinaceaHigher vertebratesCDNA libraryTransport proteinsSixfold stimulationVertebratesType II mutationAmino acidsRaja erinaceaDefective expressionBlot analysisExport pumpMutations
1998
Molecular Pathogenesis of Cholestasis
Epstein F, Trauner M, Meier P, Boyer J. Molecular Pathogenesis of Cholestasis. New England Journal Of Medicine 1998, 339: 1217-1227. PMID: 9780343, DOI: 10.1056/nejm199810223391707.Peer-Reviewed Original Research