2024 | Ütkür, K., Mayer, K., Liu, S., Brinkmann, U., Schaffrath, R., 2024. Functional Integrity of Radical SAM Enzyme Dph1 Dph2 Requires Non-canonical Cofactor Motifs with Tandem Cysteines. Preprints.org. https://doi.org/10.20944/preprints202403.1547.v1 |
2023 | Schmidt, S., Mayer, K., Klassen, R., Brinkmann, U., Schaffrath, R., 2023. DPH1 Gene Mutations Identify a Candidate SAM Pocket in Radical Enzyme Dph1•Dph2 for Diphthamide Synthesis on EF2. Biomolecules 13, 1655. https://doi.org/10.3390/biom13111655 |
2022 | Schaffrath, R., Shankar, S.P., Grimsrud, K., Lanoue, L., Egense, A., Willis, B., Horberg, J., AlAbdi, L., Mayer, K., Utkur, K., Monaghan, K.G., Krier, J., Stoler, J., Alnemer, M., Shankar, P.R., Alkuraya, F.S., Brinkmann, U., Eriksson, L.A., Lloyd, K., Rauen, K.A., 2022. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. GENETICS IN MEDICINE 24, 1567–1582. https://doi.org/10.1016/j.gim.2022.03.014 |
2022 | Schaffrath, R., Shankar, S P, Grimsrud, K., Lanoue, L., Egense, A., Willis, B., Shankar, Suma P, Shankar, P.R., Horberg, J., Albadi, L., Mayer, K.U., Mayer, K., Uetkuer, K., Monaghan, K.G., Krier, J., Stoler, J., Alkuraya, F.S., Brinkmann, U., Venn-Brinkmann, U., Eriksson, L.A., Lloyd, K., Rauen, K.A., 2022. DPH5 : A NOVEL GENE CAUSING DIPHTHAMIDE BIOSYNTHESIS DISORDERS, JOURNAL OF INVESTIGATIVE MEDICINE. BMJ PUBLISHING GROUP. https://doi.org/10.1136/jim-2022-WRMC.249 |
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