Related references
Note: Only part of the references are listed.Molybdenum Cofactor Deficiency: Mutations in GPHN, MOCS1, and MOCS2
Jochen Reiss et al.
HUMAN MUTATION (2011)
The mechanism of nucleotide-assisted molybdenum insertion into molybdopterin - A novel route toward metal cofactor assembly
Angel Llamas et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Structure of the molybdopterin-bound Cnx1G domain links molybdenum and copper metabolism
J Kuper et al.
NATURE (2004)
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia
MI Rees et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency
J Reiss et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The molybdenum cofactor biosynthetic protein Cnx1 complements molybdate-repairable mutants, transfers molybdenum to the metal binding pterin, and is associated with the cytoskeleton
G Schwarz et al.
PLANT CELL (2000)
Share Paper
