Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote
Zhao Z, Tuakli-Wosornu Y, Lagace TA, Kinch L, Grishin NV, Horton JD, Cohen JC, Hobbs HH. Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote. American Journal Of Human Genetics 2006, 79: 514-523. PMID: 16909389, PMCID: PMC1559532, DOI: 10.1086/507488.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmino Acid SequenceCells, CulturedChild, PreschoolCholesterol, LDLFemaleHeterozygoteHumansImmunoprecipitationMaleMiddle AgedModels, MolecularMolecular Sequence DataMutation, MissensePedigreeProprotein Convertase 9Proprotein ConvertasesProtein ConformationProtein FoldingProtein TransportRecombinant ProteinsSerine EndopeptidasesConceptsProprotein convertase subtilisin/kexin type 9Low plasma levelsPlasma levelsLevels of PCSK9Function mutationsLow-density lipoprotein cholesterolConvertase subtilisin/kexin type 9Subtilisin/kexin type 9LDL-lowering therapyCoronary heart diseaseDevelopment of atherosclerosisApparent good healthCompound heterozygotesWild-type PCSK9Immunoblotting of plasmaLipoprotein cholesterolHeart diseasePCSK9 secretionType 9Confer protectionLDLGood healthElevated levelsSevere lossAttractive target