5 years ago

Recent advances in understanding Cushing disease: resistance to glucocorticoid negative feedback and somatic USP8 mutations [version 1; referees: 2 approved]

Eleni Daniel, John Newell-Price
Cushing’s disease is a rare disease with a characteristic phenotype due to significant hypercortisolism driven by over-secretion of adrenocorticotropic hormone and to high morbidity and mortality if untreated. It is caused by a corticotroph adenoma of the pituitary, but the exact mechanisms leading to tumorigenesis are not clear. Recent advances in molecular biology such as the discovery of somatic mutations of the ubiquitin-specific peptidase 8 (USP8) gene allow new insights into the pathogenesis, which could be translated into exciting and much-needed therapeutic applications.

Publisher URL: https://f1000research.com/articles/6-613/v1

DOI: 10.12688/f1000research.10968.1

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