Citations for
1MOCODB, MOCS2
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L.
Hum Genet um Genet. 2016 May 2. [Epub ahead of print] 2016
2MOCODB, MOCS2
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby.
Edwards M, Roeper J, Allgood C, Chin R, Santamaria J, Wong F, Schwarz G, Whitehall J.
Meta Gene 3:43-9. doi: 10.1016/j.mgene.2014.12.003. eCollection 2015 Feb. 2015
3MOCS2, MOCS3, URM1
Dual role of the molybdenum cofactor biosynthesis protein MOCS3 in tRNA thiolation and molybdenum cofactor biosynthesis in humans.
Chowdhury MM, Dosche C, Löhmannsröben HG, Leimkühler S.
J Biol Chem 287(21):17297-307. doi: 10.1074/jbc.M112.351429. Epub 2012 Mar 27. 2012
4GPHN, MOCODA, MOCODB, MOCODC, MOCS1, MOCS2
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J, Hahnewald R.
Hum Mutat 32(1):10-8. doi: 10.1002/humu.21390. Review. 2011
5MOCODA, MOCODB, MOCS1, MOCS2
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1 and MOCS2.
Reiss J, Hahnewald R.
Hum Mutat um Mutat. 2010 Oct 28. [Epub ahead of print]PMID: 21031595 2010
6MOCS2, MOCS3, URM1
The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins.
Schmitz J, Chowdhury MM, Hänzelmann P, Nimtz M, Lee EY, Schindelin H, Leimkühler S.
Biochemistry 47(24):6479-89. Epub 2008 May 21. 2008
7MOCODB, MOCS2
Molybdenum cofactor deficiency: clinical features in a Turkish patient.
Per H, Gümüş H, Ichida K, Cağlayan O, Kumandaş S.
Brain Dev 29(6):365-8. Epub 2006 Dec 8.PMID: 17158010 2007
8MOCODB, MOCS2
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.
Hahnewald R, Leimkuhler S, Vilaseca A, Acquaviva-Bourdain C, Lenz U, Reiss J.
Mol Genet Metab 89(3):210-3. Epub 2006 Jun 5. 2006
9MOCODA, MOCODB, MOCS1, MOCS2
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.
Leimkuhler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J.
Hum Genet 117(6):565-70. Epub 2005 Jul 14. 2005
10GPHN, MOCODA, MOCODC, MOCS1, MOCS2
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J, Johnson JL.
Hum Mutat 21(6):569-76. Review. 2003
11MOCODA, MOCODB, MOCS1, MOCS2
Genetics of molybdenum cofactor deficiency.
Reiss J.
Hum Genet 106(2):157-63. Review. 2000
12MOCS2
The two subunits of human molybdopterin synthase : evidence for a bicistronic messenger RNA with overlaping reading frames.
Sloan J, et al.
Nucleic Acids Res 27 : 854-858. 1999