1 | MOCODB, 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
|
2 | MOCODB, 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
|
3 | MOCS2, 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
|
4 | GPHN, 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
|
5 | MOCODA, 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
|
6 | MOCS2, 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
|
7 | MOCODB, 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
|
8 | MOCODB, 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
|
9 | MOCODA, 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
|
10 | GPHN, 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
|
11 | MOCODA, MOCODB, MOCS1, MOCS2
|
| Genetics of molybdenum cofactor deficiency.
|
| Reiss J.
|
| Hum Genet 106(2):157-63. Review. 2000
|
12 | MOCS2
|
| 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
|