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A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for...

Marelja(Zvonimir),Stöcklein(Walter),Nimtz(... J Biol Chem 2008-10-23

...MOCS3-RLD and that sulfur is transferred from L-cysteine to MOCS3-RLD via an Nfs1-bound persulfide intermediate. Because...

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an...

Borozdin(Wiktor),Graham(John M),Böhm(Detle... Hum Mutat 2007-08-29

...MOCS3, DPM1, ADNP, BCAS4) are deleted, which were not affected in the other three cases, suggesting that the deletion of...

Site-directed mutagenesis of the active site loop of the rhodanese-like domai...

Krepinsky(Karsten),Leimkühler(Silke) FEBS J 2007-07-20

Sequence alignments of human molybdopterin synthase sulfurase, MOCS3, showed that the N-terminal domain is homologous to...

A Turkish case with molybdenum cofactor deficiency.

Ichida(K),Aydin(H Ibrahim),Hosoyamada(M),K... Nucleosides Nucleotides Nuc... 2007-01-23

...MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces argin...

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in v...

Leimkühler(Silke),Charcosset(Mathilde),Lat... Hum Genet 2005-11-10

...MOCS3 and GEPH). This disorder is caused almost exclusively by mutations in the MOCS1 or MOCS2 genes. Mutations affectin...

Molybdenum cofactor biosynthesis in humans: identification of a persulfide gr...

Matthies(Andreas),Nimtz(Manfred),Leimkühle... Biochemistry 2005-08-16

...MOCS3 rhodanese-like domain (MOCS3-RLD) catalyzes the transfer of sulfur from thiosulfate to cyanide and is also able to...

Evidence for the physiological role of a rhodanese-like protein for the biosy...

Matthies(Andreas),Rajagopalan(K V),Mendel(... Proc Natl Acad Sci U S A 2004-06-15

...MOCS3 rhodanese-like domain (MOCS3-RLD) was purified after heterologous expression in E. coli and was shown to catalyze ...

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEP...

Reiss(Jochen),Johnson(Jean L) Hum Mutat 2003-09-03

...MOCS3, and GEPH). Disease-causing mutations have been identified in three of these genes: MOCS1, MOCS2, and GEPH. MOCS1 ...

Molybdenum cofactor deficiency causes translucent integument, male-biased let...

Fujii(Tsuguru),Yamamoto(Kimiko),Banno(Yutaka) Insect Biochem Mol Biol 0000-00-00

...MOCS3, and GEPH). Through a candidate gene approach followed by sequence analysis, a 6-bp deletion was detected in an ex...

Exome-wide analysis of rare coding variation identifies novel associations wi...

Jackson(Victoria E),Ntalla(Ioanna),Sayers(... Thorax 0000-00-00

...MOCS3 (rs7269297, pdiscovery=3.08×10(-6), preplication=0.019) and a rare SNP in IFIT3, which emerged in the meta-analysi...

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