2010
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2010, 1688-1693. DOI: 10.1093/med/9780199204854.003.120702.Peer-Reviewed Original Research
2000
Inherited metabolic disease
Schilsky M, Mistry P. Inherited metabolic disease. Current Opinion In Gastroenterology 2000, 16: 219-230. PMID: 17023879, DOI: 10.1097/00001574-200005000-00004.Peer-Reviewed Original ResearchGene productsMetal metabolismGenetic disordersLysosomal storage disorderCommon lysosomal storage disorderMetabolismMetabolic diseasesStorage disorderDisease pathophysiologyDiscoveryGenesProteinGaucher diseaseNew informationTherapeutic approachesRecombinant enzyme replacement therapyWilson's diseaseIdentification
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 deliveryTraffickingKbTranscriptsTransportersMutationsATPaseGenetic Hemochromatosis
Schilsky M, Sternlieb I. Genetic Hemochromatosis. Current Clinical Practice 1998, 241-247. DOI: 10.1007/978-1-4612-1808-1_18.Peer-Reviewed Original Research
1997
Inherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1997, 13: 194-198. DOI: 10.1097/00001574-199705000-00004.Peer-Reviewed Original ResearchMutant proteinsNew insightsPathobiology of diseaseGene productsQuality control systemProtein productionMolecular studiesNew therapeutic treatmentsMolecular interactionsGenesPhysiologic functionGenetic hemochromatosisMetabolic diseasesNormal physiologic functionWilson's diseaseDiscoveryProteinCellular elementsInsightsTherapeutic treatmentBasic understandingAntitrypsin deficiencyMetabolic disordersAnimal modelsDisease