2024
Taste and smell function in Wilson's disease
Salmon M, Cohen W, Hu F, Aydin A, Coskun A, Schilsky M, Doty R. Taste and smell function in Wilson's disease. Journal Of The Neurological Sciences 2024, 459: 122949. PMID: 38493734, DOI: 10.1016/j.jns.2024.122949.Peer-Reviewed Original ResearchWilson's diseaseSmell functionUniversity of Pennsylvania Smell Identification TestPennsylvania Smell Identification TestSmell test scoresSmell Identification TestAbnormal copper metabolismOlfactory dysfunctionWD patientsOlfactory functionNeurological symptomsControl subjectsPrimary medicationTaste functionPathophysiological mechanismsHealthy controlsLinear regression analysisMultiple linear regression analysisIdentification TestCopper metabolismPatientsNo effectTaste testRegression analysisDisease
2023
Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Larsen A, Schilsky M, Ott P, Sandahl T. Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease. Journal Of Hepatology 2023, 80: 586-595. PMID: 38081365, DOI: 10.1016/j.jhep.2023.11.023.Peer-Reviewed Original ResearchEffect of tetrathiomolybdateWilson's diseaseBiliary copper excretionBiliary excretionHealthy volunteersCopper excretionWD patientsBis-choline tetrathiomolybdateNeurologic Wilson diseaseClinical trial numberPresent human studyTrial numberPET/CTCopper metabolismIntestinal copper uptakeMechanism of actionPET/MRINeurological worseningConventional therapyVenous bloodClinical trialsLower riskAnimal studiesHuman studiesCopper chelator
2018
Wilson Disease: Special Circumstances
Camarata M, Schilsky M. Wilson Disease: Special Circumstances. Clinical Gastroenterology 2018, 175-181. DOI: 10.1007/978-3-319-91527-2_10.Peer-Reviewed Original ResearchIntroduction to Copper Metabolism and Wilson Disease
To U, Schilsky M. Introduction to Copper Metabolism and Wilson Disease. Clinical Gastroenterology 2018, 1-16. DOI: 10.1007/978-3-319-91527-2_1.Peer-Reviewed Original ResearchWilson's diseaseLiver cellsChronic inflammatory stateInflammatory stateCurrent therapiesFurther injuryPsychiatric symptomsCell injuryCellular injurySmall intestineInjuryDietary copperOxidative stressCopper accumulationIron metabolismLiverProtein ceruloplasminGenetic disordersMitochondrial functionAppropriate homeostasisCopper metabolismExpression of genesEssential trace elementDiseaseCopper deficiencyChapter 19 Wilson Disease and Related Disorders
Schilsky M. Chapter 19 Wilson Disease and Related Disorders. 2018, 253-268. DOI: 10.1016/b978-0-323-47874-8.00019-5.Peer-Reviewed Original ResearchMedical therapyWilson's diseaseRegression of diseaseCentral nervous systemLiver transplantationLiver failureLiver injuryDisease progressionNervous systemRelated disordersThird decadeDiseaseGenetic disordersCopper metabolismTherapyDisordersSecond decadeCopper accumulationCirrhosisTransplantationInjuryDiagnosisLiverProgression
2010
Wilson’s Disease
Schilsky M, Mitchell K. Wilson’s Disease. Molecular Pathology Library 2010, 5: 655-663. DOI: 10.1007/978-1-4419-7107-4_43.Peer-Reviewed Original ResearchWilson's diseaseAcute hepatic necrosisFuture human studiesAutosomal recessive disorderLiver transplantationClinical findingsHepatic necrosisPathological changesFuture therapiesAnimal modelsHuman studiesHepatocyte transplantationMolecular pathogenesisUltrastructural evaluationLiver tissueDiseaseClinical methodsRecessive disorderTransplantationCopper metabolismPathogenesisTherapyGene therapyDisordersMolecular diagnostics
2009
Copper Metabolism and the Liver
Schilsky M, Thiele D. Copper Metabolism and the Liver. 2009, 221-233. DOI: 10.1002/9780470747919.ch15.Peer-Reviewed Original Research
1998
ATP7B (WND) protein
Terada K, Schilsky M, Miura N, Sugiyama T. ATP7B (WND) protein. The International Journal Of Biochemistry & Cell Biology 1998, 30: 1063-1067. PMID: 9785470, DOI: 10.1016/s1357-2725(98)00073-9.Peer-Reviewed Original ResearchConceptsATP7B proteinP-type ATPaseCopper transporterDisease-specific mutationsIntracellular traffickingKb transcriptSpecific mutationsProteinATP7BGenesGenetic disordersRecombinant adenovirusExcessive accumulationCopper metabolismRecent studiesWilson's diseaseExonsGene deliveryTraffickingKbTranscriptsTransportersMutationsATPaseInherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1998, 14: 200-207. DOI: 10.1097/00001574-199805000-00004.Peer-Reviewed Original ResearchMetabolic disordersClinical disease expressionIron overloadResponsible geneGenetic hemochromatosisMetabolic diseasesWilson's diseaseDisease expressionIron metabolismDisordersDiseaseCopper metabolismStudy of disordersNumerous recent studiesRecent studiesMetabolismPathophysiologyMolecular basisHemochromatosisCliniciansWilson’s Disease
Schilsky M, Sternlieb I. Wilson’s Disease. Current Clinical Practice 1998, 285-292. DOI: 10.1007/978-1-4612-1808-1_21.Peer-Reviewed Original ResearchWilson's diseaseCell deathAutosomal recessive disorderBiliary copper excretionInflammatory changesHepatic insufficiencyLiver diseaseLiver injuryMinor abnormalitiesCell injuryCopper excretionAbnormal accumulationDiseaseAccumulation of copperInjuryRecessive disorderDisease mutationsDeathCopper metabolismLiverOrgansChromosome 13CirrhosisInflammationFibrosis