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
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 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