ReviewJournal of endocrinological investigation2016
Genetics of Cushing's disease: an update.
Review in Journal of endocrinological investigation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 31 citations in OpenAlex.
- The treatment with pasireotide in Cushing's disease: effect of long-term treatment on clinical picture and metabolic profile and management of adverse events in the experience of a single center.Journal of endocrinological investigation · 2020Trial
- Ubiquitin and its relatives as wizards of the endolysosomal system.Journal of cell science · 2023Article
- Advances and controversies in the classification and grading of pituitary tumors.Journal of endocrinological investigation · 2019Review
- CHMP1B is a target of USP8/UBPY regulated by ubiquitin during endocytosis.PLoS genetics · 2018Article
- Article
- AT-101 acts as anti-proliferative and hormone suppressive agent in mouse pituitary corticotroph tumor cells.Journal of endocrinological investigation · 2018Article
- Frequency of familial pituitary adenoma syndromes among patients with functioning pituitary adenomas in a reference outpatient clinic.Journal of endocrinological investigation · 2017Article
- Identification of a novelCold Spring Harbor molecular case studies · 2017Article
- Recent advances in understanding Cushing disease: resistance to glucocorticoid negative feedback and somatic USP8 mutations.F1000Research · 2017Review
- Gene mutations in Cushing's disease.Biomedical reports · 2016Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCushing's disease (CD) results from uncontrolled hypercortisolism induced by ACTH-secreting corticotroph adenomas; accordingly, patients diagnosed with CD usually present several comorbidities and an increased risk of mortality. Hypothesis-driven screenings have led to identification of rare alterations in a low number of patients, although the genetic basis underlying CD has remained unclear until recently. Using whole-exome sequencing, recurrent mutations have been reported in the gene coding for the ubiquitin-specific protease 8 (USP8), a protein with deubiquitinase (DUB) activity that modulates the lysosomal turnover of the EGF receptor (EGFR) and other membrane proteins.
methodsIn this review, we summarize the recent genetic findings and discuss the clinical and pathological implications of USP8 deregulation in corticotroph adenomas.
conclusionsMutations in USP8 have been identified in 35-62 % of functional sporadic corticotroph adenomas causing Cushing's disease, but not in any other type of pituitary tumor. These mutations are found mostly in adult female patients and lead to an aberrant DUB activation by impairing the regulation of USP8 by members of the 14-3-3 family of proteins. The consequence of this hyperactivation is a longer retention of EGFR at the plasma membrane which promotes an enhanced production of ACTH.
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