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
Effect 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. Effect of Mutation Type on Ectopic Ossification Among Adult Patients With X-Linked Hypophosphatemia. Journal Of The Endocrine Society 2024, 8: bvae184. PMID: 39498416, PMCID: PMC11532897, 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 function
2023
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments
Kato H, Braddock D, Ito N. Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments. Current Osteoporosis Reports 2023, 21: 552-566. PMID: 37530996, PMCID: PMC10543536, DOI: 10.1007/s11914-023-00814-6.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsDiffuse idiopathic skeletal hyperostosisAutosomal recessive hypophosphatemic rickets type 2Idiopathic skeletal hyperostosisSkeletal hyperostosisOPLL patientsGenetic factorsPathogenic variantsFibroblast growth factor 23Growth factor 23Posterior longitudinal ligamentSpinal ligament ossificationRecent FindingsRecent studiesStrong genetic factorImportant new biomarkerDisease courseFactor 23Longitudinal ligamentClinical evaluationPlasma biomarkersClinical trialsLigament ossificationPlasma PPiCalcification disordersPatientsEctopic calcification
2019
Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model
Braddock D, Oheim R, Zimmerman K, Kavanagh D, Horowitz M, Carpenter T. Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model. Bone Abstracts 2019 DOI: 10.1530/boneabs.7.p64.Peer-Reviewed Original Research
2017
Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice
Caballero D, Li Y, Fetene J, Ponsetto J, Chen A, Zhu C, Braddock DT, Bergwitz C. Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice. PLOS ONE 2017, 12: e0180098. PMID: 28704395, PMCID: PMC5509111, DOI: 10.1371/journal.pone.0180098.Peer-Reviewed Original ResearchConceptsRenal calcificationCompared to WT miceElevated urinary excretionRenal stone diseaseNucleotide pyrophosphatase phosphodiesterase 1WT miceDietary calciumUrinary excretionIntraperitoneal administrationStone diseaseNull miceMouse mutationMiceCalcificationNephrocalcinosisNpt2aDisordersUnrecognized factorsContribution of genotypePresent studyPhosphodiesterase 1PPINpt2cPatientsNephrolithiasis
2000
Biophysical Characterization of gp41 Aggregates Suggests a Model for the Molecular Mechanism of HIV-associated Neurological Damage and Dementia*
Caffrey M, Braddock D, Louis J, Abu-Asab M, Kingma D, Liotta L, Tsokos M, Tresser N, Pannell L, Watts N, Steven A, Simon M, Stahl S, Wingfield P, Clore G. Biophysical Characterization of gp41 Aggregates Suggests a Model for the Molecular Mechanism of HIV-associated Neurological Damage and Dementia*. Journal Of Biological Chemistry 2000, 275: 19877-19882. PMID: 10747981, DOI: 10.1074/jbc.m001036200.Peer-Reviewed Original ResearchMeSH KeywordsAIDS Dementia ComplexBrainBrain DiseasesChromatography, GelEndopeptidasesExtracellular SpaceHIV Envelope Protein gp41HIV SeropositivityHumansHydrogen-Ion ConcentrationImmunohistochemistryMembrane GlycoproteinsMicroscopy, ElectronProtein BindingProtein Structure, TertiaryRetroviridae ProteinsConceptsNeurological damageBrains of HIVHuman immunodeficiency virusImmunodeficiency virusEnvelope protein gp41HIVBrain tissueDementiaHigh molecular weight formExtracellular aggregatesMolecular weight formsSimian immunodeficiency virus gp41Gp41Molecular mechanismsWeight formsHIV gp41HIV envelope protein gp41Extracellular ectodomainBiochemical methodsDamagePatientsImmunohistochemistryHigh molecular weight aggregatesBrain