Refine
Departments, institutes and facilities
- Fachbereich Wirtschaftswissenschaften (1243)
- Fachbereich Informatik (1148)
- Fachbereich Angewandte Naturwissenschaften (766)
- Fachbereich Ingenieurwissenschaften und Kommunikation (636)
- Institut für funktionale Gen-Analytik (IFGA) (584)
- Institut für Technik, Ressourcenschonung und Energieeffizienz (TREE) (485)
- Präsidium (403)
- Fachbereich Sozialpolitik und Soziale Sicherung (402)
- Institute of Visual Computing (IVC) (313)
- Institut für Cyber Security & Privacy (ICSP) (307)
Document Type
- Article (2431)
- Conference Object (1806)
- Part of a Book (942)
- Book (monograph, edited volume) (452)
- Part of Periodical (411)
- Report (201)
- Contribution to a Periodical (118)
- Doctoral Thesis (106)
- Working Paper (94)
- Preprint (90)
Year of publication
Keywords
- Lehrbuch (88)
- Deutschland (34)
- Nachhaltigkeit (30)
- Controlling (25)
- Unternehmen (25)
- Management (20)
- Corporate Social Responsibility (18)
- Betriebswirtschaftslehre (17)
- Digitalisierung (17)
- Machine Learning (17)
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli
(2004)
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
(2003)
Screening in clinical trials
(2002)
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.