{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["28(5)"],"submitter":["Wang S"],"funding":["National Natural Science Foundation of China"],"pubmed_abstract":["Wilson disease (WD) is caused by mutations of the copper-transporting gene, <i>ATP7B</i>, leading to abnormal copper metabolism. A better characterization of WD is essential in understanding the effects of excess copper and how it disrupts immune regulation and hematopoietic development. Furthermore, the exploration of the relationship between copper-mediated proliferation or cuproptosis and immune regulation is critical for developing new immune therapies. Therefore, we performed single-cell RNA sequencing (scRNA-seq) on peripheral blood mononuclear cells (PBMCs) to develop an atlas of the immune landscape. Cells were clustered into several immune subsets, and cuproptosis-associated genes were assessed. Differential expression analysis was performed to identify WD-specific signatures by c"],"journal":["iScience"],"pagination":["112450"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12084004"],"repository":["biostudies-literature"],"pubmed_title":["A single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation."],"pmcid":["PMC12084004"],"pubmed_authors":["Li J","Li C","Xin Q","Zhang H","Yan S","Sun X","Guo R","Zhao X","Jiang Y","Qiu Z","Sun N","Li Y","Yin F","Jue B","Wang S","Yue B","Gao Y","Chen Y","Fu L","Xue M","Wang X","Shi J","Qin B"],"additional_accession":[]},"is_claimable":false,"name":"A single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation.","description":"Wilson disease (WD) is caused by mutations of the copper-transporting gene, <i>ATP7B</i>, leading to abnormal copper metabolism. A better characterization of WD is essential in understanding the effects of excess copper and how it disrupts immune regulation and hematopoietic development. Furthermore, the exploration of the relationship between copper-mediated proliferation or cuproptosis and immune regulation is critical for developing new immune therapies. Therefore, we performed single-cell RNA sequencing (scRNA-seq) on peripheral blood mononuclear cells (PBMCs) to develop an atlas of the immune landscape. Cells were clustered into several immune subsets, and cuproptosis-associated genes were assessed. Differential expression analysis was performed to identify WD-specific signatures by c","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-01T23:01:39.176Z","creation":"2026-05-23T03:08:16.304Z"},"accession":"S-EPMC12084004","cross_references":{"pubmed":["40384935"],"doi":["10.1016/j.isci.2025.112450"]}}