2009
LDL-Receptor Related Protein Five Controls Bone Formation by Inhibiting Serotonin Synthesis in the Duodenum
Yadav V, Ryu J, Suda N, Tanaka K, Gingrich J, Schütz G, Glorieux F, Chiang C, Zajac J, Insogna K, Mann J, Hen R, Ducy P, Karsenty G. LDL-Receptor Related Protein Five Controls Bone Formation by Inhibiting Serotonin Synthesis in the Duodenum. Obstetrical & Gynecological Survey 2009, 64: 240-242. DOI: 10.1097/01.ogx.0000345723.85624.24.Peer-Reviewed Original ResearchLDL receptor-related protein 5Function mutationsHigh bone mass syndromeTryptophan hydroxylase 1Bone massSerotonin synthesisGene deletion experimentsBone formationLrp5 lossEnterochromaffin cellsMajor regulatory roleMass syndromeBone diseaseVertebrate homologsOsteoporosis pseudogliomaTranscriptional effectorsWnt proteinsBiosynthetic enzymesDeletion experimentsRegulatory roleRare bone diseasesProtein 5Rate-limiting biosynthetic enzymeMutationsLRP5 gain
2002
High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5. New England Journal Of Medicine 2002, 346: 1513-1521. PMID: 12015390, DOI: 10.1056/nejmoa013444.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersBone DensityCase-Control StudiesChromosomes, Human, Pair 11FemaleGenes, DominantGenotypeHumansIntercellular Signaling Peptides and ProteinsLDL-Receptor Related ProteinsLow Density Lipoprotein Receptor-Related Protein-5MaleMandibleMutation, MissenseOsteogenesisPalatePedigreePoint MutationProteinsProto-Oncogene ProteinsRadiographyReceptors, LDLSignal TransductionSyndromeWnt ProteinsZebrafish ProteinsConceptsLow-density lipoprotein receptor-related protein 5Higher bone densityProtein 5Bone densityDevelopmental proteinsLipoprotein receptor-related protein 5Fruit flyGenetic analysisDeep mandibleWnt activityTorus palatinusWnt pathwayFunction mutationsWntMajor public health problemNormal glycineBiochemical analysisMutationsTreatment of osteoporosisHigh bone massPublic health problemCodon 171Potential targetAutosomal dominant syndromeGenes