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
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
1995
In 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