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
Oxidative-phosphorylation defects in liver of patients with Wilson's disease
Gu M, Cooper J, Butler P, Walker A, Mistry P, Dooley J, Schapira A. Oxidative-phosphorylation defects in liver of patients with Wilson's disease. The Lancet 2000, 356: 469-474. PMID: 10981891, DOI: 10.1016/s0140-6736(00)02556-3.Peer-Reviewed Original ResearchConceptsTrans-Golgi networkP-type ATPaseOxidative phosphorylation defectsSevere mitochondrial dysfunctionWD proteinProtein functionMitochondrial functionAconitase activityMitochondrial dysfunctionWD pathogenesisEnergy metabolismOxidative damageEnzyme activityMitochondriaCopper accumulationATPaseEnzyme defectWilson's diseaseGolgiP-type copperProteinMutationsUse of antioxidantsDefectsFunctionInherited 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