2025
Chapter 30 Wilson disease⊛
To U, Schilsky M. Chapter 30 Wilson disease⊛. 2025, 841-859. DOI: 10.1016/b978-0-443-26711-6.00030-5.Peer-Reviewed Original ResearchWilson's diseaseAutosomal recessive disorderATP7B proteinNegative copper balanceDiverse phenotypesATP7B geneUnexplained liver diseaseLong-term survivalCopper transportBiochemical testsGenetic testingRecessive disorderMetabolic correctionLiver transplantationMedical historyHepatic symptomsLiver diseaseATP7BCopper excretionNeurological assessmentDietary restrictionIncreased excretionCopper balancePsychiatric symptomsExcretion
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