Official PDF Translation•Acta Biochimica et Biophysica Sinica

Integrated quantitative proteomics and phosphoproteomics analysis reveals USP46-POU4F1-HPSE signaling axis in the pathogenesis of Hirschsprung disease

Authors: Guowei Li; Fengyin Sun; Jiawei Chen; Qiongqian Xu; Xintao Zhang; Luqiu Chen; Peimin Hou; Aiwu Li

DOI: 10.3724/abbs.2025064Status: Verified Translated Edition

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Key Findings in This Report

• Integrated proteomics and phosphoproteomics reveal ECM remodeling dysregulation in HSCR. • USP46 is downregulated in aganglionic segments and interacts with transcription factor POU4F1. • USP46 deubiquitinates POU4F1, enhancing HPSE expression and promoting neural cell migration. • The USP46-POU4F1-HPSE axis offers novel therapeutic targets for HSCR.