2024
ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia
Reichenberger E, O’Brien K, Hatori A, Carpenter T, van de Wetering K, Flaman L, Howe J, Ortiz D, Sabbagh Y, Chen I. ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. JBMR Plus 2024, 8: ziae103. PMID: 39165910, PMCID: PMC11334334, DOI: 10.1093/jbmrpl/ziae103.Peer-Reviewed Original ResearchPlasma PPi levelsCraniometaphyseal dysplasiaEctopic calcificationKnock-in (KI) miceCraniofacial bonesAutosomal dominant craniometaphyseal dysplasiaPPi levelsSkeletal phenotypeForamen magnumIncreased bone massEnzyme replacement therapyGenetic bone disordersMetaphyses of long bonesKnock-inSevere headacheReplacement therapyFacial palsyNeural foraminaNeurological symptomsInhibitor of mineralizationReplicates many featuresMouse modelBone disordersENPP1 activityCraniofacial hyperostosis
2016
Pigment epithelium‐derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade
Belinsky GS, Sreekumar B, Andrejecsk JW, Saltzman WM, Gong J, Herzog RI, Lin S, Horsley V, Carpenter TO, Chung C. Pigment epithelium‐derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade. The FASEB Journal 2016, 30: 2837-2848. PMID: 27127101, PMCID: PMC4970601, DOI: 10.1096/fj.201500027r.Peer-Reviewed Original ResearchConceptsPigment epithelium-derived factorOsteogenesis imperfecta type VIWnt/β-catenin signalingBone massOI type VIΒ-catenin signalingAbility of PEDFTrabecular bone volume/total volumeType VIBone volume/total volumeWild-type miceEpithelium-derived factorBone plasticityPEDF-knockout miceMesenchymal stem cell commitmentBone volume fractionKO micePEDF peptidesStem cell commitmentFluorescent protein reporterCombination of Wnt3aMouse modelWnt modulatorsBone mineralizationMice