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• W1987758506 abstract "Human molybdenum cofactor deficiency is a rare and devastating autosomal-recessive disease for which no therapy is known. The absence of active sulfite oxidase—a molybdenum cofactor-dependent enzyme—results in neonatal seizures and early childhood death. Most patients harbor mutations in the MOCS1 gene, whose murine homolog was disrupted by homologous recombination with a targeting vector. As in humans, heterozygous mice display no symptoms, but homozygous animals die between days 1 and 11 after birth. Biochemical analyis of these animals shows that molydopterin and active cofactor are undetectable. They do not possess any sulfite oxidase or xanthine dehydrogenase activity. No organ abnormalities were observed and the synaptic localization of inhibitory receptors, which was found to be disturbed in molybdenum cofactor deficient-mice with a Gephyrin mutation, appears normal. MOCS1−/− mice could be a suitable animal model for biochemical and/or genetic therapy approaches." @default.
• W1987758506 created "2016-06-24" @default.
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• W1987758506 date "2002-12-15" @default.
• W1987758506 modified "2023-10-17" @default.
• W1987758506 title "Molybdenum cofactor-deficient mice resemble the phenotype of human patients" @default.
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• W1987758506 doi "https://doi.org/10.1093/hmg/11.26.3309" @default.
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