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
2011
LRP6 Protein Regulates Low Density Lipoprotein (LDL) Receptor-mediated LDL Uptake*
Ye ZJ, Go GW, Singh R, Liu W, Keramati AR, Mani A. LRP6 Protein Regulates Low Density Lipoprotein (LDL) Receptor-mediated LDL Uptake*. Journal Of Biological Chemistry 2011, 287: 1335-1344. PMID: 22128165, PMCID: PMC3256876, DOI: 10.1074/jbc.m111.295287.Peer-Reviewed Original ResearchConceptsLDL uptakeLDL bindingHigh serum LDL cholesterol levelReceptor-mediated LDL uptakeSerum LDL cholesterol levelsSerum LDL levelsHigh serum LDL levelsLDL cholesterol levelsPeripheral B lymphocytesLDL levelsCholesterol levelsLDL clearanceLRP6 knockdownMutation carriersImpaired functionB lymphocytesLDL receptorLRP6 geneCHO cellsCritical modulatorLDLRLDL endocytosisGreater declineCHO-K1 cellsLRP6