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
2023
Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia
Barros J, Braddock D, Carpenter T. Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia. Bone Reports 2023, 19: 101707. PMID: 37654679, PMCID: PMC10466911, DOI: 10.1016/j.bonr.2023.101707.Peer-Reviewed Original ResearchMonths of ageCraniometaphyseal dysplasiaLow serum phosphorusElevated serum alkaline phosphatase activityHeterozygous pathogenic variantsSerum alkaline phosphatase activityHigh tubular reabsorptionProgressive hyperostosisSecondary hyperparathyroidismRadiographic improvementSerum phosphorusTubular reabsorptionRadiographic changesCranial nervesEarly featureMetaphyseal flaringPathogenic variantsDysplasiaRicketsSkeletal dysplasiaBiochemical profileMonthsLong bonesCraniofacial bonesAge 1