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          Institute: MPI für Hirnforschung     Collection: Neurochemistry (Heinrich Betz)     Display Documents



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ID: 10581.0, MPI für Hirnforschung / Neurochemistry (Heinrich Betz)
Molybdenum cofactor-deficient mice resemble the phenotype of human patients
Authors:Lee, H. J.; Adham, I. M.; Schwarz, G.; Kneussel, M.; Sass, J. O.; Engel, W.; Reiss, J.
Language:English
Date of Publication (YYYY-MM-DD):2002
Title of Journal:Human Molecular Genetics
Journal Abbrev.:Hum. Mol. Genet.
Volume:11
Issue / Number:26
Start Page:3309
End Page:3317
Review Status:Peer-review
Audience:Not Specified
Abstract / Description:Human molybdenum cofactor deficiency is 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 targeting vector. As in humans, heterozygous mice display no symptoms, but homozygous animals die between days 1 and 11 after birth. Biochemical analysis 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 Gephyrin mutation, appears normal. MOCS-/- mice could be suitable animal model for biochemical and/or genetic therapy approaches.
Comment of the Author/Creator:Date: 2002, DEC 15
External Publication Status:published
Document Type:Article
Communicated by:N. N.
Affiliations:MPI für Hirnforschung
External Affiliations:Univ Gottingen, Inst Humangenet, Heinrich Duker Weg 12, D-37073; Gottingen, Germany; Univ Gottingen, Inst Humangenet, D-37073 Gottingen, Germany; Tech Univ Carolo Wilhelmina Braunschweig, Inst Pflanzenbiol, D-3300 Braunschweig, Germany; Max Planck Inst Hirnforsch, D-6000 Frankfurt, Germany; Univ Freiburg Klinikum, Zentrum Kinderheilkunde & Jugendmed, Freiburg, Germany
Identifiers:ISI:000179819700007 [ID No:1]
ISSN:0964-6906 [ID No:2]
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