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
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
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