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
2018
ENPP1 Enzyme Replacement Prevents the Osteomalacia and Paradoxical Mineralization in the Enpp1asj/asj mouse model of Autosomal Recessive Hypophosphatemic Rickets Type‐2.
Braddock D, Kavanagh D, Li X, Carpenter T, Levine M, Horowitz M. ENPP1 Enzyme Replacement Prevents the Osteomalacia and Paradoxical Mineralization in the Enpp1asj/asj mouse model of Autosomal Recessive Hypophosphatemic Rickets Type‐2. The FASEB Journal 2018, 32: 816.13-816.13. DOI: 10.1096/fasebj.2018.32.1_supplement.816.13.Peer-Reviewed Original ResearchAutosomal recessive hypophosphatemic rickets type 2High-phosphate dietThinner growth platesBone mineral densityTrabecular bone volumePhosphate dietGrowth plate thicknessHistologic changesMineral densityOld miceProximal tibiaTissue calcificationBone volumeType 2Growth plateSoft tissue calcificationExperimental cohortEnzyme replacement therapyGeneralized Arterial CalcificationTrabecular boneFull-text articlesOsteopenic bone phenotypePost-yield deflectionHistologic hallmarkVascular calcification