TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Lee, Heon-Jin
A1  - Adham, Ibrahim M.
A1  - Schwarz, Günter
A1  - Kneussel, Matthias
A1  - Sass, Jörn O.
A1  - Engel, Wolfgang
A1  - Reiss, Jochen
T1  - Molybdenum cofactor-deficient mice resemble the phenotype of human patients
JF  - Human Molecular Genetics
N2  - 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.
Y1  - 2002
SN  - 0964-6906
SS  - 0964-6906
U6  - https://doi.org/10.1093/hmg/11.26.3309
DO  - https://doi.org/10.1093/hmg/11.26.3309
PM  - 12471057
VL  - 11
IS  - 26
SP  - 3309
EP  - 3317
PB  - Oxford University Press
ER  -