2024
Quantitative 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 glycoproteinDeficiency