| Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system in tRNA thiolation and ubiquitin-like conjugation. | Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system in tRNA thiolation and ubiquitin-like conjugation.
Pabis M, Termathe M, Ravichandran KE, Kienast SD, Krutyhołowa R, Sokołowski M, Jankowska U, Grudnik P, Leidel SA, Glatt S., Free PMC Article | 04/13/2021 |
| This observation should encourage testing of additional intellectual disability patients with mild abnormalities of sulfite metabolism for MOCS3 mutations. | Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS. | 12/2/2017 |
| Among the associated variants were two in regions previously unreported for COPD; a low frequency non-synonymous SNP in MOCS3 (rs7269297, pdiscovery=3.08x10(-6), preplication=0.019) and a rare SNP in IFIT3, which emerged in the meta-analysis (rs140549288, pmeta=8.56x10(-6)). | Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
Jackson VE, Ntalla I, Sayers I, Morris R, Whincup P, Casas JP, Amuzu A, Choi M, Dale C, Kumari M, Engmann J, Kalsheker N, Chappell S, Guetta-Baranes T, McKeever TM, Palmer CN, Tavendale R, Holloway JW, Sayer AA, Dennison EM, Cooper C, Bafadhel M, Barker B, Brightling C, Bolton CE, John ME, Parker SG, Moffat MF, Wardlaw AJ, Connolly MJ, Porteous DJ, Smith BH, Padmanabhan S, Hocking L, Stirrups KE, Deloukas P, Strachan DP, Hall IP, Tobin MD, Wain LV., Free PMC Article | 06/24/2017 |
| ubiquitin-like Urm1.Uba4 systems are conserved and exchangeable between human and yeast cells | Urmylation and tRNA thiolation functions of ubiquitin-like Uba4·Urm1 systems are conserved from yeast to man.
Jüdes A, Ebert F, Bär C, Thüring KL, Harrer A, Klassen R, Helm M, Stark MJ, Schaffrath R. | 05/23/2015 |