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 ResearchConceptsMajor 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
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 detection
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 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 repopulation
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 ResearchConceptsBiliary 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
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 ResearchConceptsPlasma 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 ResearchConceptsYeast 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
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