Characterization of a novel mutation in the E2 ubiquitin-conjugating enzyme UBE2A accounts for the decreased activity of the mutant enzyme that underlies disease and provides important insight into the catalytic mechanism of E2s.
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Foglizzo, M., Day, C.L. E2 enzymes: lessons in ubiquitin transfer from XLID patients. Nat Chem Biol 15, 6–7 (2019). https://doi.org/10.1038/s41589-018-0191-4
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DOI: https://doi.org/10.1038/s41589-018-0191-4
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