2020
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization
Maulding ND, Kavanagh D, Zimmerman K, Coppola G, Carpenter TO, Jue NK, Braddock DT. Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization. Bone 2020, 142: 115656. PMID: 32980560, PMCID: PMC7744330, DOI: 10.1016/j.bone.2020.115656.Peer-Reviewed Original ResearchConceptsGenetic pathwaysSkeletal phenotypeGene expressionHuman disease phenotypesAsj/Suppression of WntTranscript countsGene transcriptionENPP1-deficient miceGene pathwaysEnzyme functionENPP1 deficiencyWnt ligandsSoluble Wnt inhibitorsWnt activityReduced gene transcriptionBiomechanical phenotypeTranscriptionWnt inhibitorsBone findingsUnbiased analysisDisease phenotypePhenotypeOld miceStrong signature
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