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
2022
The cardiomyocyte disrupts pyrimidine biosynthesis in non-myocytes to regulate heart repair
Li S, Yokota T, Wang P, Hoeve J, Ma F, Le TM, Abt ER, Zhou Y, Wu R, Nanthavongdouangsy M, Rodriguez A, Wang Y, Lin YJ, Muranaka H, Sharpley M, Braddock DT, MacRae VE, Banerjee U, Chiou PY, Seldin M, Huang D, Teitell M, Gertsman I, Jung M, Bensinger SJ, Damoiseaux R, Faull K, Pellegrini M, Lusis A, Graeber TG, Radu CG, Deb A. The cardiomyocyte disrupts pyrimidine biosynthesis in non-myocytes to regulate heart repair. Journal Of Clinical Investigation 2022, 132: e149711. PMID: 34813507, PMCID: PMC8759793, DOI: 10.1172/jci149711.Peer-Reviewed Original ResearchConceptsCardiac injuryHeart repairENPP1 inhibitorsPyrimidine biosynthesisHeart injuryIschemic cardiac injuryAdministration of uridineEctonucleotide pyrophosphatase/phosphodiesterase 1Augmenting tissue repairP53-mediated cell deathSmall molecule screeningCardiac muscle cellsPyrophosphatase/phosphodiesterase 1Systemic administrationNonmyocyte cellsMurine modelHeart functionCardiac repairGenotoxic stressInjuryIntercellular regulationMuscle cellsPopulation of cellsExtracellular ATPMolecule screening