Article

Functional Spectrum of USP7 Pathogenic Variants in Hao-Fountain Syndrome: Insights into the Enzyme’s Activity, Stability, and Allosteric Modulation

2025-03-20

Abstract excerpt

<h4>SUMMARY</h4> Hao-Fountain syndrome is a rare neurodevelopmental disorder caused by mutations in the de-ubiquitinating enzyme USP7 (Ubiquitin Specific Protease 7). Due to the novelty of the disease and its poorly understood molecular mechanisms, treatments for the syndrome are currently lacking. This study examines the effects of 11 patient-derived variants located within the catalytic domain of USP7, focusing...

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Literature Corpus work: 7d761bb0-4f69-550f-be89-aa93c455d834
DOI: 10.1101/2025.03.20.644318

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