2024
Correction of Paradoxical Mineralization in Murine CKD-MBD by ENPP1 Enzyme Biologics
Kato H, Kim H, Ishaq T, Sims D, Srivastava S, Stabach P, Carpenter T, O'Neill W, Braddock D. Correction of Paradoxical Mineralization in Murine CKD-MBD by ENPP1 Enzyme Biologics. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024sre0cym1. DOI: 10.1681/asn.2024sre0cym1.Peer-Reviewed Original ResearchQuantitative correlation of ENPP1 pathogenic variants with disease phenotype
Ansh A, Stabach P, Ciccone C, Cao W, De La Cruz E, Sabbagh Y, Carpenter T, Ferreira C, Braddock D. Quantitative correlation of ENPP1 pathogenic variants with disease phenotype. Bone 2024, 186: 117136. PMID: 38806089, PMCID: PMC11227391, DOI: 10.1016/j.bone.2024.117136.Peer-Reviewed Original ResearchEctonucleotide pyrophosphatase/phosphodiesterase 1Pathogenic variantsDisease phenotypeEnzyme velocityCompound heterozygotesEnzyme activityVariable enzyme activityAutosomal dominant phenotypeHigh-throughput assayAutosomal recessive formInnate immune responseENPP1 variantsDamaging variantsENPP1 deficiencyCole diseaseDominant phenotypeAutosomal dominant diseaseCatalytic velocityRecessive formEnzymePhenotypeWT levelsBio-active moleculesClinical phenotypeDominant disease
2023
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
Ferreira C, Carpenter T, Braddock D. ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency. Annual Review Of Pathology Mechanisms Of Disease 2023, 19: 507-540. PMID: 37871131, PMCID: PMC11062289, DOI: 10.1146/annurev-pathmechdis-051222-121126.Peer-Reviewed Original ResearchGeneral medical populationENPP1 deficiencyMedical populationsEctonucleotide pyrophosphatase/phosphodiesteraseSoft tissue diseaseEarly-onset osteoporosisMiddle-aged adultsClinical presentationTissue diseaseVascular calcificationArterial calcificationBedside developmentRare diseaseMineralization disordersLarge arteriesPyrophosphatase/phosphodiesteraseClinical phenotypeExtracellular ATPSoft tissuePathophysiologyAdenosine monophosphateDiseaseCalcificationTransmembrane glycoproteinDeficiencyHypophosphatemic 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
2022
Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults
Ansh A, Nester C, O'Brien C, Stabach P, Murtada S, Lester E, Khursigara G, Molloy L, Carpenter T, Ferreira C, Braddock D. Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults. The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5311.Peer-Reviewed Original ResearchENPP1 deficiencyQuality of lifeMusculoskeletal complicationsReplacement therapyBrief Pain Inventory-Short FormPhysical Function Short FormAchilles tendon calcificationHealth-related qualityMajority of patientsCervical spine fusionPresence of enthesopathyAnalgesic medicationRegular chowResidual painAdult patientsDose escalationPhysical functionCardiovascular calcificationTendon calcificationAchilles tendonSpine fusionMurine modelHypophosphatemic ricketsEnzyme replacementPatientsSystematic characterization of enzyme activity on ENPP1 deficiency disease phenotype
Ansh A, Stabach P, Carpenter T, Ferreira C, Braddock D. Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotype. The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5223.Peer-Reviewed Original Research
2020
Enpp1 enzyme replacement restores bone mass in murine model of Enpp1 associated osteoporosis
Braddock D, Kavanagh D, Oheim R, Zimmerman K, Kroge S, Stabach P, Tommasini S, Levine M, Carpenter T, Horowitz M. Enpp1 enzyme replacement restores bone mass in murine model of Enpp1 associated osteoporosis. Bone Reports 2020, 13: 100623. DOI: 10.1016/j.bonr.2020.100623.Peer-Reviewed Original ResearchENPP1 regulates bone mass via an unidentified catalytically independent mechanism
Braddock D, Zimmerman K, Oheim R, Kroge S, Stabach P, Kavanagh D, Tommasini S, Carpenter T. ENPP1 regulates bone mass via an unidentified catalytically independent mechanism. Bone Reports 2020, 13: 100692. DOI: 10.1016/j.bonr.2020.100692.Peer-Reviewed Original Research
2019
Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model
Braddock D, Oheim R, Zimmerman K, Kavanagh D, Horowitz M, Carpenter T. Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model. Bone Abstracts 2019 DOI: 10.1530/boneabs.7.p64.Peer-Reviewed Original Research
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
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