Article
Systemic and cardiac pathology induced by a clinically relevant USP8 activating mutation.
Disease models & mechanisms - 1 Jul 2026
González-Costa Tamara, Galicia-Martín Abel, Calle Daniel, Cussó Lorena, Soto-Navarrete María Teresa, Luo Xiaoxi, Méndez-Peralta Lucía, Grego-Bessa Joaquim, de la Pompa José Luis
Abstract excerpt
Cushing's disease (CD), the most common endogenous Cushing's syndrome, is caused by activating mutations in the ubiquitin-specific protease 8 (USP8) gene. These mutations drive adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas and hypercortisolism. Clinical manifestations include muscle weakness, osteopenia, cataracts and cardiovascular dysfunction. To investigate the pathogenic mechanisms of USP8...
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