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
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
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