English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT

Released

Journal Article

Molybdenum cofactor-deficient mice resemble the phenotype of human patients

MPS-Authors
/persons/resource/persons208050

Kneussel,  M.
Neurochemistry Department, Max Planck Institute for Brain Research, Max Planck Society;

External Resource
No external resources are shared
Fulltext (restricted access)
There are currently no full texts shared for your IP range.
Fulltext (public)
There are no public fulltexts stored in PuRe
Supplementary Material (public)
There is no public supplementary material available
Citation

Lee, H. J., Adham, I. M., Schwarz, G., Kneussel, M., Sass, J. O., Engel, W., et al. (2002). Molybdenum cofactor-deficient mice resemble the phenotype of human patients. Human Molecular Genetics, 11(26), 3309-3317.


Cite as: https://hdl.handle.net/11858/00-001M-0000-002E-1FA0-2
Abstract
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.