2011
Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment
Rosencrantz R, Schilsky M. Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment. Seminars In Liver Disease 2011, 31: 245-259. PMID: 21901655, DOI: 10.1055/s-0031-1286056.Peer-Reviewed Original ResearchConceptsPathologic findingsWilson's diseaseHepatocyte cell transplantationLife-long treatmentInitiation of treatmentKayser-Fleischer ringsFirst-degree relativesPresence of signsBiliary copper excretionLiver transplantationMedical therapyLow ceruloplasminCell transplantationElevated urineLenticular degenerationHistologic changesDisease progressionClinical signsFatal disorderNeurologic diseaseAnimal modelsClinical considerationsCopper excretionDiseaseEarly detectionGenetic Modifiers of Liver Injury in Hereditary Liver Disease
Ala A, Schilsky M. Genetic Modifiers of Liver Injury in Hereditary Liver Disease. Seminars In Liver Disease 2011, 31: 208-214. PMID: 21538285, DOI: 10.1055/s-0031-1276648.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAlpha 1-AntitrypsinAlpha 1-Antitrypsin DeficiencyAnimalsCation Transport ProteinsCopper-transporting ATPasesDisease ProgressionGenetic Predisposition to DiseaseHemochromatosisHemochromatosis ProteinHepatolenticular DegenerationHeredityHistocompatibility Antigens Class IHumansLiverMembrane ProteinsPhenotypeSeverity of Illness IndexConceptsLiver diseaseWilson's diseaseGenetic hemochromatosisHereditary liver diseasesHepatic injuryLiver injuryIron overloadATP7B genotypeA1-ATC282Y mutationClinical phenotypeDiseaseRegenerative capacityGenetic modifiersPatientsInjuryHemochromatosisHeterozygous genotypeModifier genesGenetic backgroundMutationsWide variationModifier effectSignificant variabilityLiver
2008
Diagnosis and treatment of Wilson disease: An update
Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update. Hepatology 2008, 47: 2089-2111. PMID: 18506894, DOI: 10.1002/hep.22261.Peer-Reviewed Original Research
2001
Correction of Liver Disease Following Transplantation of Normal Rat Hepatocytes into Long–Evans Cinnamon Rats Modeling Wilson's Disease
Irani A, Malhi H, Slehria S, Gorla G, Volenberg I, Schilsky M, Gupta S. Correction of Liver Disease Following Transplantation of Normal Rat Hepatocytes into Long–Evans Cinnamon Rats Modeling Wilson's Disease. Molecular Therapy 2001, 3: 302-309. PMID: 11273771, DOI: 10.1006/mthe.2001.0271.Peer-Reviewed Original ResearchConceptsLiver repopulationTreatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation?
Schilsky M. Treatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation? Current Gastroenterology Reports 2001, 3: 54-59. PMID: 11177695, DOI: 10.1007/s11894-001-0041-4.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesChelating AgentsDrug Therapy, CombinationFemaleHepatolenticular DegenerationHumansMolybdenumPenicillaminePregnancyTrientineZincConceptsWilson's diseaseSymptomatic patientsTreatment of choiceInitial therapyMaintenance therapyPregnant patientsCombination therapyZinc supplementationBest therapyNeurologic diseaseChelation therapyNext treatmentMedical treatmentPatientsTherapyDiseaseTrientineFurther studiesTreatmentMore effective alternativesEffective alternativeNew optionsPenicillamineLiverSupplementation
2000
Biliary copper excretion capacity in intact animals: Correlation between ATP7B function, hepatic mass, and biliary copper excretion
Schilsky M, Irani A, Gorla G, Volenberg I, Gupta S. Biliary copper excretion capacity in intact animals: Correlation between ATP7B function, hepatic mass, and biliary copper excretion. Journal Of Biochemical And Molecular Toxicology 2000, 14: 210-214. PMID: 10789499, DOI: 10.1002/(sici)1099-0461(2000)14:4<210::aid-jbt5>3.0.co;2-g.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAnimalsBiliary TractCarrier ProteinsCation Transport ProteinsCopperCopper-transporting ATPasesLiverOrgan SizeRatsConceptsBiliary copper excretionCopper excretionLong-Evans AgoutiHepatic massIntact animalsLEA ratsLEC ratsExcretion capacityMinute study periodTwo-thirds partial hepatectomyLong-Evans Cinnamon ratsBile collectionPathophysiological mechanismsNovel therapiesHepatocyte massExcretionRatsPartial hepatectomyTransient increaseStudy periodATP7B functionOne-third
1998
Copper resistant human hepatoblastoma mutant cell lines without metallothionein induction overexpress ATP7B
Schilsky M, Stockert R, Kesner A, Gorla G, Gagliardi G, Terada K, Miura N, Czaja M. Copper resistant human hepatoblastoma mutant cell lines without metallothionein induction overexpress ATP7B. Hepatology 1998, 28: 1347-1356. PMID: 9794921, DOI: 10.1002/hep.510280525.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesBlotting, NorthernBlotting, WesternCadmiumCarrier ProteinsCation Transport ProteinsCeruloplasminCopperCopper-transporting ATPasesDrug ResistanceGene ExpressionGlutathioneHepatoblastomaHumansKineticsLiver NeoplasmsMetallothioneinMutagenesisProtein BiosynthesisRNA, MessengerTumor Cells, CulturedZincConceptsCell linesSubcellular distributionCopper uptakeCopper toxicityBasal expressionZinc toxicityMetallothionein messenger RNAMutant cell linesIndependent cell linesCellular resistanceATP7B proteinHuman hepatoblastoma cell lineMembrane fractionIntracellular sequestrationOrganellesMessenger RNAHepatoblastoma cell lineResistant cell linesProteinATP7BExpressionHuh7InductionGlutathione contentMT inductionATP7B (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 deliveryTraffickingKbTranscriptsTransportersMutationsATPase
1994
Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis
Schilsky M. Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis. Hepatology 1994, 20: 529-533. PMID: 8045514, DOI: 10.1002/hep.1840200235.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesCopperGenesHepatolenticular DegenerationHumansMenkes Kinky Hair SyndromeMutationSequence Homology, Nucleic AcidConceptsYeast artificial chromosomesAmino acid homologyMenkes disease geneDisease genesCDNA clonesSingle marker intervalATPase geneArtificial chromosomesMarker intervalP-type ATPase familyCopper transportP-type ATPase genesWilson disease geneBinding regionsLinkage disequilibriumHeavy metal transportersATP-binding domainCandidate cDNA clonesGenetic mapping dataWD geneAutosomal recessive disorderOpen reading framePartial cDNA cloneMetal binding regionsHuman liver cDNA library