2024
Novel treatment for PXE: Recombinant ENPP1 enzyme therapy
Jacobs I, Obiri-Yeboah D, Stabach P, Braddock D, Li Q. Novel treatment for PXE: Recombinant ENPP1 enzyme therapy. Molecular Therapy 2024 PMID: 39342427, DOI: 10.1016/j.ymthe.2024.09.028.Peer-Reviewed Original ResearchAbcc6<sup>-/-</sup> micePseudoxanthoma elasticumAbcc6<sup>-/-</sup> mouse model of pseudoxanthoma elasticumPPi levelsMouse model of pseudoxanthoma elasticumModel of pseudoxanthoma elasticumEnzyme therapyEctopic calcificationPlasma PPi levelsMuzzle skinDose-dependent elevationHepatic efflux transportersPrevent ectopic calcificationPlasma PPiABCC6 geneATP secretionTherapeutic optionsDose-dependentlyEfflux transportersInactivating mutationsENPP1 activitySubcutaneous injectionWeeks of ageNovel treatmentCalcification disorders
2015
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy
Albright RA, Stabach P, Cao W, Kavanagh D, Mullen I, Braddock AA, Covo MS, Tehan M, Yang G, Cheng Z, Bouchard K, Yu ZX, Thorn S, Wang X, Folta-Stogniew EJ, Negrete A, Sinusas AJ, Shiloach J, Zubal G, Madri JA, De La Cruz EM, Braddock DT. ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. Nature Communications 2015, 6: 10006. PMID: 26624227, PMCID: PMC4686714, DOI: 10.1038/ncomms10006.Peer-Reviewed Original ResearchConceptsChronic kidney diseaseVascular calcificationArterial calcificationOrphan diseaseCommon diseaseSequelae of diseaseEctopic vascular calcificationInternal elastic laminaPrevent mortalityRenal failureCardiac failureKidney diseaseSubcutaneous administrationRodent modelsAnimal modelsEctopic calcificationVascular wallLarge arteriesElastic laminaDiseaseCalcificationCalciphylaxisDecreased concentrationSclerosisArtery