2013
Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome
Singh R, Smith E, Fathzadeh M, Liu W, Go G, Subrahmanyan L, Faramarzi S, McKenna W, Mani A. Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome. Human Mutation 2013, 34: 1221-1225. PMID: 23703864, PMCID: PMC3745535, DOI: 10.1002/humu.22360.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesCoronary DiseaseEuropeFemaleGenetic Predisposition to DiseaseGenetic VariationGlycosylationHumansLow Density Lipoprotein Receptor-Related Protein-6MaleMetabolic SyndromeMiddle AgedMutationPedigreePhylogenySequence AlignmentUnited StatesWnt ProteinsYoung AdultConceptsCoronary artery diseaseMetabolic syndromeLRP6 mutationFamilial coronary artery diseaseArtery diseaseDisease populationSyndromeConserved glycosylation siteNovel mutationsFunction mutationsPropeller domainRare mutationsEuropean controlsLRP6MutationsCritical roleMetabolic traitsWhite AmericansPrevalenceDisease
2012
Low Density Lipoprotein (LDL) Receptor-related Protein 6 (LRP6) Regulates Body Fat and Glucose Homeostasis by Modulating Nutrient Sensing Pathways and Mitochondrial Energy Expenditure*
Liu W, Singh R, Choi CS, Lee HY, Keramati AR, Samuel VT, Lifton RP, Shulman GI, Mani A. Low Density Lipoprotein (LDL) Receptor-related Protein 6 (LRP6) Regulates Body Fat and Glucose Homeostasis by Modulating Nutrient Sensing Pathways and Mitochondrial Energy Expenditure*. Journal Of Biological Chemistry 2012, 287: 7213-7223. PMID: 22232553, PMCID: PMC3293520, DOI: 10.1074/jbc.m111.286724.Peer-Reviewed Original ResearchMeSH KeywordsAdipose Tissue, BrownAdiposityAllelesAnimalsDiabetes Mellitus, Type 2Dietary FatsEnergy MetabolismForkhead Box Protein O1Forkhead Transcription FactorsGluconeogenesisGlucoseGlucose-6-PhosphataseHomeostasisInsulin ResistanceLow Density Lipoprotein Receptor-Related Protein-6Mechanistic Target of Rapamycin Complex 1MiceMice, KnockoutMitochondriaMultiprotein ComplexesObesityProteinsReceptors, LeptinTOR Serine-Threonine KinasesWnt Signaling PathwayConceptsLow-density lipoprotein receptor-related protein 6Type 2 diabetesInsulin resistanceInsulin sensitivityBody fatAdipose tissue insulin sensitivityLipoprotein receptor-related protein 6Tissue insulin resistanceTissue insulin sensitivityDiet-induced obesityHigh-fat dietLeptin receptor expressionHepatic insulin sensitivityHepatic glucose outputWild-type littermatesFoxo1-dependent expressionMitochondrial energy expenditureMetabolic syndromeFat dietReduced adiposityReceptor expressionPharmacological interventionsGlucose outputGlucose homeostasisKey gluconeogenic enzymes