98%
921
2 minutes
20
Wilson disease (WD) is a rare autosomal recessive disease caused due to mutations in the ATP7B gene. Here, we describe the establishment of an induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) of a WD patient with compound heterozygous mutations in the ATP7B gene [c.2165dup (p.R723Efs31) and c.C813A (p.C271*)] by using integration-free Sendai virus reprogramming system.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.scr.2024.103567 | DOI Listing |
Kaohsiung J Med Sci
September 2025
Department of Medical Oncology, Haikou People's Hospital, Haikou, Hainan, People's Republic of China.
Inhibition of cuproptosis contributes to the development of non-small cell lung cancer (NSCLC). The expression of RNA-binding motif protein 15 (RBM15) is upregulated in NSCLC. Nonetheless, its relationship with cuproptosis remains unclear.
View Article and Find Full Text PDFFuture Cardiol
September 2025
Surgery, St. Anna Hospital, Herne, Germany.
Introduction: Wilson's disease (WD) is a rare autosomal recessive disorder caused by ATP7B gene mutations, leading to systemic copper accumulation. This systematic review examines the cardiac manifestations of WD and aims to summarize key diagnostic and therapeutic findings from available studies.
Methods: We conducted a systematic review of 21 studies using databases such as PubMed and Scopus.
Cell Biosci
August 2025
Department of Orthopedic Surgery, Qingdao Municipal Hospital, University of Health and Rehabilitation Sciences, Qingdao, China.
Background: Spinal cord ischemia reperfusion injury (SCIRI) is a serious disease that can result in irreversible neuronal damage, leading to the loss of sensory and motor function. Cuproptosis, a novel form of regulated cell death, has been studied in various diseases. However, the role and mechanism of cuproptosis in SCIRI remain to be elucidated.
View Article and Find Full Text PDFMedicine (Baltimore)
August 2025
People's Hospital of Chongqing Banan District, Chongqing, China.
This study explored the molecular patterns and diagnostic biomarkers associated with cuproptosis in cardioembolic stroke (CES) using bioinformatics tools. GSE58294 expression profile data were downloaded from the Gene Expression Synthesis Database as a training dataset, and cuproptosis-related genes were extracted for analysis. We identified differentially expressed cuproptosis-associated genes (DECAGs) between CES and control samples.
View Article and Find Full Text PDFClin Chim Acta
August 2025
Department of Applied Biology, College of Sciences, University of Sharjah, United Arab Emirates. Electronic address:
Wilson's disease is an autosomal recessive disorder related to genetic defects in ATP7B gene and characterized by a hepatic and/or neurological impairment. This disease is often misdiagnosed on due to its phenotypic heterogeneity, supporting the importance of the genetic testing. In our study, we reported two brothers presenting with a chronic hepatopathy, classified as intrahepatic cholestasis with unknown etiology based on clinical explorations.
View Article and Find Full Text PDF