Systemic and cardiac pathology induced by a clinically relevant USP8 activating mutation.

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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• Endopeptidases
• Endosomal Sorting Complexes Required for Transport
• Gain of Function Mutation
• Mice, Transgenic
• Mutation