Article
Functional spectrum of USP7 pathogenic variants in Hao-Fountain syndrome: Insights into the enzyme's activity, stability, and allosteric modulation.
Proceedings of the National Academy of Sciences of the United States of America - 30 Sept 2025
Korchak Emilie J, Sharafi Mona, Jaen Maisonet Isabella, Salazar-Chaparro Andres, Semenova Irina V, Khan Hamza, O'Neil Alison L, Caro Pilar, Schaaf Christian P, Buhrlage Sara J, Bezsonova Irina
Abstract excerpt
Hao-Fountain syndrome is a rare neurodevelopmental disorder caused by mutations in the deubiquitinating enzyme Ubiquitin-Specific Protease 7 (USP7). 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 on their impact...
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