2022
Major Depressive Disorder in an International Multisite Wilson Disease Registry
Camarata M, Ala A, Coskun A, Deng Y, Embel V, Gonzalez-Peralta R, Maciejewski K, Patel A, Rubman S, To U, Tomlin R, Schilsky M, Zimbrean P. Major Depressive Disorder in an International Multisite Wilson Disease Registry. Journal Of The Academy Of Consultation-Liaison Psychiatry 2022, 64: 106-117. PMID: 36521682, DOI: 10.1016/j.jaclp.2022.12.001.Peer-Reviewed Original ResearchMeSH KeywordsCopperCross-Sectional StudiesDepressive Disorder, MajorHepatolenticular DegenerationHumansQuality of LifeConceptsMajor depressive disorderWilson's diseaseDepressive disorderLifetime major depressive disorderMental health QOLPhysical health QoLMajor depressive episodeMental health qualityStructured psychiatric evaluationSignificant differencesCross-sectional reportsLiver testsLiver diseaseNeurological assessmentLife scoresClinical correlatesDepressive episodePsychiatric symptomsPsychiatric evaluationDisease RegistrySevere anxietyLaboratory testsLifetime historySignificant associationPatients
2015
Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease
Ala A, Aliu E, Schilsky ML. Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease. Digestive Diseases And Sciences 2015, 60: 1433-1439. PMID: 25605552, PMCID: PMC4427615, DOI: 10.1007/s10620-014-3495-6.Peer-Reviewed Original ResearchMeSH KeywordsAdministration, OralAdultAgedChelating AgentsDrug Administration ScheduleFemaleHepatolenticular DegenerationHumansMaleMedication AdherenceMiddle AgedPatient DropoutsPatient SatisfactionPilot ProjectsProspective StudiesSurveys and QuestionnairesTime FactorsTreatment OutcomeTrientineYoung AdultConceptsSingle daily doseWilson's diseaseDaily doseDaily treatment regimenStable Wilson's diseaseProspective pilot studyLiver synthetic functionSingle daily dosageEnd of treatmentResultsAll patientsMaintenance therapyTreatment regimenDaily dosageLifelong therapyLarge trialsZinc excretionUrine copperTreatment stoppageSide effectsTreatment efficacyTrientineTherapyPatientsPilot studyDisease
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 ResearchMeSH KeywordsAdenosine TriphosphatasesAntioxidantsCation Transport ProteinsCentral Nervous System DiseasesChelating AgentsCopperCopper-transporting ATPasesHepatolenticular DegenerationHumansPrognosisConceptsPathologic 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
Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests
Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV, Squires RH, Fontana RJ, Lee WM, Schilsky ML, Groups P. Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests. Hepatology 2008, 48: 1167-1174. PMID: 18798336, PMCID: PMC4881751, DOI: 10.1002/hep.22446.Peer-Reviewed Original ResearchConceptsAcute liver failureDiagnosis of ALFSerum copper levelsFulminant Wilson's diseaseWilson's diseaseLiver failureDiagnostic sensitivityEmergency liver transplantationChronic liver diseaseAlkaline phosphataseAvailable diagnostic testsCopper levelsAvailable laboratory testsALF patientsTransplant listingLikelihood ratioLiver transplantationSerum aminotransferasesLiver diseaseALT ratioSerum ceruloplasminBilirubin ratioPatientsSerum CpRapid diagnosisDiagnosis 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 ResearchAdenosine TriphosphatasesCation Transport ProteinsCopperCopper-transporting ATPasesHepatolenticular DegenerationHumansLiverMutation
2001
The irony of treating Wilson's disease
Schilsky M. The irony of treating Wilson's disease. The American Journal Of Gastroenterology 2001, 96: ajg2001764. PMID: 11721750, DOI: 10.1111/j.1572-0241.2001.05254.x.Peer-Reviewed Original ResearchHepatolenticular DegenerationHumansORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON’S DISEASE
Emre S, Atillasoy E, Ozdemir S, Schilsky M, Varma C, Thung S, Sternlieb I, Guy S, Sheiner P, Schwartz M, Miller C. ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON’S DISEASE. Transplantation 2001, 72: 1232-1236. PMID: 11602847, DOI: 10.1097/00007890-200110150-00008.Peer-Reviewed Original ResearchConceptsOrthotopic liver transplantationOne-year patientFulminant Wilson's diseaseLiver transplantationWilson's diseaseGraft survivalRenal failureDisease cureAcute renal failureLate postoperative complicationsChronic liver diseaseFulminant liver failureNormal liver functionLong-term survivalHepatic complicationsPost-OLTBiliary copper excretionPostoperative complicationsPatient agePatient demographicsSupportive careDisease recurrenceLiver failureLiver injuryMedical therapyCorrection 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
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 deliveryTraffickingKbTranscriptsTransportersMutationsATPase
1995
An array of mitochondrial alterations in the hepatocytes of long‐evans cinnamon rats
Sternlieb I, Quintana N, Volenberg I, Schilsky M. An array of mitochondrial alterations in the hepatocytes of long‐evans cinnamon rats. Hepatology 1995, 22: 1782-1787. PMID: 7489989, DOI: 10.1002/hep.1840220626.Peer-Reviewed Original ResearchIn vitro modeling of liver membrane copper transport
Schilsky M. In vitro modeling of liver membrane copper transport. Hepatology 1995, 22: 1340-1342. PMID: 7557893, DOI: 10.1002/hep.1840220449.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphateAnimalsBiological TransportCell MembraneCopperHepatolenticular DegenerationIn Vitro TechniquesLiverRatsRats, Mutant StrainsRats, WistarConceptsPlasma membrane vesiclesMembrane vesiclesCu transportGlutathione-conjugate transporterCanalicular plasma membrane vesiclesP-type ATPaseBasolateral plasma membrane vesiclesATPase inhibitor vanadatePlasma membrane fractionPresence of ATPAbsence of ATPVesicle transportRat liver plasma membrane vesiclesMammalian systemsP-type ATPase inhibitor vanadateLysosomal pathwayCu secretionLiver plasma membrane vesiclesATP-regenerating systemCu uptakeCopper transportRecent cloningMembrane fractionBiochemical evidenceVesicles
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 libraryLiver transplantation for Wilson's disease: Indications and outcome
Schilsky M, Scheinberg I, Sternlieb I. Liver transplantation for Wilson's disease: Indications and outcome. Hepatology 1994, 19: 583-587. PMID: 8119682, DOI: 10.1002/hep.1840190307.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildFemaleHealth SurveysHepatolenticular DegenerationHumansLiver TransplantationMaleMiddle AgedPostoperative ComplicationsRetrospective StudiesSurvival AnalysisTreatment OutcomeConceptsOrthotopic liver transplantationLiver transplantationNeurological Wilson's diseaseHepatic insufficiencyWilson's diseaseFulminant hepatitisSevere hepatic insufficiencyManagement of patientsIntractable neurological diseasesNonfatal complicationsGastrointestinal hemorrhageVascular complicationsMedian survivalMedical therapyRetrospective reviewPsychiatric manifestationsStudy groupPsychiatric symptomsPatientsTransplantationNeurological diseasesInsufficiencyDiseaseTransplantHepatitis
1991
Prognosis of Wilsonian chronic active hepatitis
Schilsky M, Scheinberg I, Sternlieb I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology 1991, 100: 762-767. PMID: 1993498, DOI: 10.1016/0016-5085(91)80023-3.Peer-Reviewed Original ResearchConceptsChronic active hepatitisActive hepatitisWilson's diseaseD-penicillamineAbnormal water retentionPresence of cirrhosisMonths of treatmentSuccessful pharmacological treatmentMajority of subjectsLiver transplantSalt restrictionLaboratory featuresSymptomatic improvementLiver diseaseTherapeutic regimenPharmacological treatmentAlanine aminotransferasePatientsAspartate aminotransferaseHepatitisNormal levelsDiseaseCirrhosisTrientinePrognosis
1987
PENICILLAMINE MAY DETOXIFY COPPER IN WILSON'S DISEASE
Scheinberg I, Sternlieb I, Schilsky M, Stockert R. PENICILLAMINE MAY DETOXIFY COPPER IN WILSON'S DISEASE. The Lancet 1987, 330: 95. PMID: 2885586, DOI: 10.1016/s0140-6736(87)92753-x.Peer-Reviewed Original Research