Featured Publications
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 replacementPatients
2024
Impact of mutation type on ectopic ossification among adult patients with X-linked hypophosphatemia
Kato H, Ishihara Y, Ohata Y, Irie K, Watanabe S, Kimura S, Hoshino Y, Hidaka N, Kinoshita Y, Taniguchi Y, Kobayashi H, Braddock D, Kubota T, Ozono K, Nangaku M, Makita N, Ito N. Impact of mutation type on ectopic ossification among adult patients with X-linked hypophosphatemia. Journal Of The Endocrine Society 2024, bvae184. DOI: 10.1210/jendso/bvae184.Peer-Reviewed Original ResearchX-linked hypophosphatemiaNonsense-mediated decayEctopic ossificationPathogenic variantsSpinal computed tomography scansMutation typeInhibitor of tissue calcificationComputed tomography scanSpinal ligament ossificationGenotype-phenotype correlationKellgren-Lawrence classificationNon-consanguineous familyPHEX mutationsPHEX variantAdult patientsTomography scanLigament ossificationFibroblast growth factorYellow ligamentOS indexKellgren-LawrenceStudy populationTissue calcificationPatientsProtein functionA dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models
Stabach P, Sims D, Gomez-Bañuelos E, Zehentmeier S, Dammen-Brower K, Bernhisel A, Kujawski S, Lopez S, Petri M, Goldman D, Lester E, Le Q, Ishaq T, Kim H, Srivastava S, Kumar D, Pereira J, Yarema K, Koumpouras F, Andrade F, Braddock D. A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models. JCI Insight 2024, 9: e177003. PMID: 38888971, PMCID: PMC11383374, DOI: 10.1172/jci.insight.177003.Peer-Reviewed Original ResearchSystemic lupus erythematosusDNASE1L3 deficiencySporadic systemic lupus erythematosusAssociated with systemic lupus erythematosusChromatin degradationDNA accumulationDevelopment of lupusPristane-induced lupusSelf-DNACell free DNAHuman isoformsSystemic lupus erythematosus plasmasDouble knockout miceDNASE1L3Pathogenic effectsFree DNALupus modelEnzymeInducible lupus modelAdult patientsLupus erythematosusKnockout micePediatric populationAutoimmune diseasesDNA
2020
Musculoskeletal Comorbidities and Quality of Life in ENPP1‐Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models
Ferreira CR, Ansh AJ, Nester C, O'Brien C, Stabach PR, Murtada S, Lester ER, Khursigara G, Molloy L, Carpenter TO, Braddock DT. Musculoskeletal Comorbidities and Quality of Life in ENPP1‐Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models. Journal Of Bone And Mineral Research 2020, 37: 494-504. PMID: 34882836, PMCID: PMC9667476, DOI: 10.1002/jbmr.4487.Peer-Reviewed Original ResearchConceptsENPP1 deficiencyAsj/Musculoskeletal complicationsBrief Pain Inventory-Short FormPhysical Function Short FormFibroblast growth factor 23Achilles tendon calcificationHealth-related qualityMajority of patientsGrowth factor 23Cervical spine fusionPresence of enthesopathyQuality of lifeAnalgesic medicationRegular chowResidual painAdult patientsDose escalationFactor 23Replacement therapyPhysical functionCardiovascular calcificationTendon calcificationAchilles tendonSpine fusion