BiochemistryProceedings of the National Academy of SciencesPeer-reviewed
Functional Spectrum of USP7 Pathogenic Variants in Hao-Fountain Syndrome: Insights into the Enzyme's Activity, Stability, and Allosteric Modulation
Emilie J. Korchak, Mona Sharafi, Isabella Jaen Maisonet…·Irina Bezsonova
This study analyzes 11 USP7 variants in Hao-Fountain syndrome, showing they affect enzyme activity, stability, and substrate recognition, with some variants responsive to an allosteric activator.
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