Impact of USP8 Gene Mutations on Protein Deregulation in Cushing Disease | Zendy

Isabel Weigand | Zendy; Lisanne Knobloch | Zendy; Jörg Flitsch | Zendy; Wolfgang Saeger | Zendy; Camelia M. Monoranu | Zendy; Kerstin Höfner | Zendy; Sabine Herterich | Zendy; Roman Rotermund | Zendy; Cristina L. Ronchi | Zendy; Michael Buchfelder | Zendy; Markus Glatzel | Zendy; Christian Hagel | Zendy; Martin Faßnacht | Zendy; Timo Deutschbein | Zendy; Silviu Sbiera | Zendy

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Impact of USP8 Gene Mutations on Protein Deregulation in Cushing Disease

Author(s) -

Isabel Weigand,

Lisanne Knobloch,

Jörg Flitsch,

Wolfgang Saeger,

Camelia M. Monoranu,

Kerstin Höfner,

Sabine Herterich,

Roman Rotermund,

Cristina L. Ronchi,

Michael Buchfelder,

Markus Glatzel,

Christian Hagel,

Martin Faßnacht,

Timo Deutschbein,

Silviu Sbiera

Publication year - 2019

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2018-02564

Subject(s) - biology , cancer research , microbiology and biotechnology , creb , corticotropic cell , carcinogenesis , transcription factor , endocrinology , gene , genetics , pituitary gland , hormone

Cushing disease (CD) is a rare disorder with severe sequels and incompletely understood pathogenesis. The underlying corticotroph adenomas harbor frequently somatic mutations in the ubiquitin-specific peptidase 8 (USP8) gene. These mutations render USP8 hyperactive and prevent client proteins from degradation.

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