Gene Review:
MOCS2 - molybdenum cofactor synthesis 2
Homo sapiens
Synonyms:
MCBPE, MOCO1, MOCODB, MPTS
- Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. Leimkuhler, S., Freuer, A., Araujo, J.A., Rajagopalan, K.V., Mendel, R.R. J. Biol. Chem. (2003)
- Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans. Matthies, A., Rajagopalan, K.V., Mendel, R.R., Leimkühler, S. Proc. Natl. Acad. Sci. U.S.A. (2004)
- A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Reiss, J., Gross-Hardt, S., Christensen, E., Schmidt, P., Mendel, R.R., Schwarz, G. Am. J. Hum. Genet. (2001)
- Crystal structure of molybdopterin synthase and its evolutionary relationship to ubiquitin activation. Rudolph, M.J., Wuebbens, M.M., Rajagopalan, K.V., Schindelin, H. Nat. Struct. Biol. (2001)
- Diversity and phylogeny of gephyrin: tissue-specific splice variants, gene structure, and sequence similarities to molybdenum cofactor-synthesizing and cytoskeleton-associated proteins. Ramming, M., Kins, S., Werner, N., Hermann, A., Betz, H., Kirsch, J. Proc. Natl. Acad. Sci. U.S.A. (2000)
- Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Reiss, J., Dorche, C., Stallmeyer, B., Mendel, R.R., Cohen, N., Zabot, M.T. Am. J. Hum. Genet. (1999)
- The crystal structure of Escherichia coli MoeA and its relationship to the multifunctional protein gephyrin. Xiang, S., Nichols, J., Rajagopalan, K.V., Schindelin, H. Structure (Camb.) (2001)
- Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Reiss, J., Johnson, J.L. Hum. Mutat. (2003)
- The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames. Sloan, J., Kinghorn, J.R., Unkles, S.E. Nucleic Acids Res. (1999)
- The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. David-Watine, B. Gene (2001)
- The 1.2 A structure of the human sulfite oxidase cytochrome b(5) domain. Rudolph, M.J., Johnson, J.L., Rajagopalan, K.V., Kisker, C. Acta Crystallogr. D Biol. Crystallogr. (2003)
- Crystal structure of the gephyrin-related molybdenum cofactor biosynthesis protein MogA from Escherichia coli. Liu, M.T., Wuebbens, M.M., Rajagopalan, K.V., Schindelin, H. J. Biol. Chem. (2000)
- Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. Leimkühler, S., Charcosset, M., Latour, P., Dorche, C., Kleppe, S., Scaglia, F., Szymczak, I., Schupp, P., Hahnewald, R., Reiss, J. Hum. Genet. (2005)
- Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. Hänzelmann, P., Schwarz, G., Mendel, R.R. J. Biol. Chem. (2002)
- In vitro incorporation of nascent molybdenum cofactor into human sulfite oxidase. Leimkühler, S., Rajagopalan, K.V. J. Biol. Chem. (2001)
- The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Reiss, J., Bonin, M., Schwegler, H., Sass, J.O., Garattini, E., Wagner, S., Lee, H.J., Engel, W., Riess, O., Schwarz, G. Mol. Genet. Metab. (2005)
- Molybdenum cofactor biosynthesis in humans: identification of a persulfide group in the rhodanese-like domain of MOCS3 by mass spectrometry. Matthies, A., Nimtz, M., Leimkühler, S. Biochemistry (2005)
- A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. Hahnewald, R., Leimk??hler, S., Vilaseca, A., Acquaviva-Bourdain, C., Lenz, U., Reiss, J. Mol. Genet. Metab. (2006)
- Computer-controlled 22-channel stimulator for limb movement. Davis, R., Eckhouse, R., Patrick, J.F., Delehanty, A. Acta neurochirurgica. Supplementum. (1987)
- Enhancing the value of scaling and root-planing: Arestin clinical trial results. Van Dyke, T.E., Offenbacher, S., Braswell, L., Lessem, J. Journal of the International Academy of Periodontology. (2002)