Integrated proteomics and single-cell transcriptomics reveal potential therapeutic targets in Wilson's disease patients.

ABSTRACT:

Purpose

Wilson's Disease (WD), an autosomal recessive ATP7B mutations disorder causing copper accumulation, poses diagnostic challenges. This study used proteomics and single-cell transcriptomics to identify WD mechanisms and therapeutic targets.

Methods

Proteomic analysis was conducted on clinical samples from WD patients and the control group, followed by validation via ELISA. Subsequently, an integrated analysis was conducted by combining these data with single-cell RNA sequencing data from the database. Analytical content included differential expression, functional enrichment, drug target prediction, immune infiltration, and subtype-specific biomarker screening via LASSO/SVM-REF.

Results

Proteomic analysis identified 420 differentially expressed proteins (

SUBMITTER: Qi Y 

PROVIDER: S-EPMC12521215 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature