Article

Molecular bases for USP48 cis-activity regulation and hyperactivation by Cushing's disease-associated mutations

2025-12-28

Abstract excerpt

Ubiquitin-specific protease 48 (USP48) is a deubiquitinating enzyme involved in various pathophysiological processes, including DNA repair, tumorigenesis, and inflammation. Somatic mutations in USP48 (M415I/V) are associated with pituitary tumors in Cushing's disease. These variants lead to increased USP48 enzyme activity and adrenocorticotropic hormone (ACTH) hypersecretion, a key feature of Cushing's disease, in...

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Literature Corpus work: 9c7ea83c-216b-5148-bf3f-bc895afba9fe
DOI: 10.64898/2025.12.27.696724

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