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Article

The Sonic Hedgehog Pathway is Activated in Cushing's Disease with USP8 Mutations.

Biochemical genetics - 1 Oct 2026

Huang Shan, Xu Yihua, Zhou Xiang, Lu Jiahuan, Cao Xiaoyun

Abstract excerpt

Cushing's disease (CD) is a neuroendocrine disorder characterized by excessive adrenocorticotropic hormone (ACTH) secretion from pituitary adenomas, closely associated with ubiquitin-specific protease 8 (USP8) mutations. This study aimed to investigate whether USP8 mutations activate the Sonic Hedgehog (SHH) pathway by deubiquitinating its key component Smoothened (SMO), thereby promoting ACTH production in CD....

Read the complete abstract on PubMed

Topics

Humans
Hedgehog Proteins
Ubiquitin Thiolesterase
Endosomal Sorting Complexes Required for Transport
Pituitary ACTH Hypersecretion
Smoothened Receptor

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Signal Transduction

Mutation

Endopeptidases

Zinc Finger Protein Gli2

HeLa Cells

Ubiquitination

Pro-Opiomelanocortin

Adrenocorticotropic Hormone

Nuclear Proteins

Source

Identifiers

PMID: 42101757
DOI: 10.1007/s10528-026-11383-5

Genes

USP8
SMO
SHH
GLI2
POMC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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