ATP7B antibody
- Known as:
- ATP7B (anti-)
- Catalog number:
- orb10160
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- ATP7B antibody
Related genes to: ATP7B antibody
- Gene:
- ATP7B NIH gene
- Name:
- ATPase copper transporting beta
- Previous symbol:
- WND
- Synonyms:
- -
- Chromosome:
- 13q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-02-10
Related products to: ATP7B antibody
Related articles to: ATP7B antibody
- Genotype-phenotype correlation studies fail to explain the phenotypic diversity in Wilson disease (WD) and the missing link may lie in transcriptomics. Therefore, we performed genome-wide transcriptomic profiling and machine-learning-based random forest modeling (RF) to identify the most important genes that could explain phenotypic variability in WD and reveal the molecular pathogenesis of WD. For this purpose, we used bulk RNA sequencing approaches to include 47 genetically confirmed pediatric hepatic WD patients and controls. We observed 321 differentially expressed genes (DEGs) in WD. Among top 100 DEGs, 42 significant DEGs (p < 0.05) were correlated with Kayser-Fleischer ring, serum ceruloplasmin, 24-h urinary copper levels, PELD score at recruitment, and degree of presentation at diagnosis. The random forest model identified a panel of ten genes: GPR37L1, OIP5, TRAJ23, IGHA2, TDRD1, LILRA4, HMOX2, UGT2B17, IGLV7-46 and EPHA1 that could explain 97.22% of phenotypic variability in WD. Ingenuity pathway analysis ranked MAP kinase pathway highest, driven by upregulation of RPS6KA1 (logFC = 4.68) and downregulation of DUSP16 (logFC = -5.22), and GAPLINC (logFC = -2.45). Iron homeostasis signaling demonstrated comparable enrichment, involving key genes ATP6V0D2 (logFC = -4.06), HMOX2 (logFC = -2.70), HBD (logFC = 1.96) and HBZ (logFC = 1.76). These results suggest that children with WD have dysregulation in MAP Kinase and iron homeostasis signaling pathways providing an important insight into the molecular pathogenesis of WD. RF modeling identified a panel of biomarker with ten genes, that could explain the phenotypic variability in WD. - Source: PubMed
Publication date: 2026/10/02
Mishra Amresh KumarSen Sarma MoinakDubey AnchalSrivastava AnshuMoirangthem AmitaSinha Rohit AnthonyMisra Durga Prasanna - A 24-year-old male with a body mass index (BMI) of 37.4 kg/m was referred to our hospital following the incidental discovery of abnormal liver echogenicity on a routine physical examination. The patient denied any history of alcohol consumption or illicit drug use and reported no family history of liver or metabolic diseases. Abdominal ultrasonography performed in December 2025 revealed heterogeneous liver echotexture with diffuse nodular hyperechoic areas, initially suggestive of nodular fatty infiltration or cirrhosis, and was accompanied by mild splenomegaly. Contrast-enhanced abdominal computed tomography (CT) demonstrated the following findings (Figure A). - Source: PubMed
Publication date: 2026/09/30
Jiang LongfengDai ZixingZhu Chuanlong - Cuproptosis is a form of programmed cell death reported in 2022, characterized by copper ions directly binding to mitochondrial lipoylated proteins, inducing aberrant protein aggregation and destabilizing iron-sulfur cluster proteins, ultimately leading to cell death. Distinct from apoptosis, ferroptosis, and other known death modalities, cuproptosis does not rely on classical caspase pathways but exerts its cytotoxic effects by interfering with mitochondrial metabolism. Copper, an essential trace element for humans, maintains its homeostasis through precise regulation by transporters such as CTR1 (copper transporter 1), ATP7A (ATPase copper transporting alpha), and ATP7B (ATPase copper transporting beta). Dysregulated copper metabolism is closely associated with tumor initiation and progression. The central nervous system, being one of the organs with the highest copper content, exhibits heightened sensitivity to copper homeostasis imbalance. During metabolic reprogramming, central nervous system tumors such as glioma and medulloblastoma display enhanced copper dependency, rendering them potential targets for cuproptosis-inducing agents. However, tumor cells can develop resistance to cuproptosis through multiple mechanisms, including upregulation of ATP7A/ATP7B to promote copper efflux, downregulation of FDX1 (ferredoxin 1) and DLAT (dihydrolipoamide S-acetyltransferase) to reduce molecular sensitivity, activation of antioxidant systems such as glutathione, and metabolic switching toward glycolysis. Although several reviews have summarized cuproptosis mechanisms, a comprehensive synthesis focusing specifically on central nervous system tumors remains lacking. This review aimed to systematically examine the molecular basis of copper metabolism and cuproptosis, research progress in various central nervous system tumors, resistance mechanisms and counterstrategies, and cuproptosis-targeted therapeutic approaches. By bridging mechanistic insights with translational challenges unique to neuro-oncology, this review aimed to provide a theoretical foundation for the clinical application of cuproptosis-based therapies and to guide future research directions. Current evidence demonstrates that copper ionophores such as elesclomol and disulfiram, copper-based nanomaterials, and combination strategies with immunotherapy or radiotherapy exhibit promising antitumor efficacy in central nervous system tumor models. Meanwhile, challenges including blood-brain barrier delivery efficiency, normal neuron protection, and elucidation of resistance mechanisms remain major hurdles for clinical translation. The findings of this review could provide a theoretical foundation for the translational application of cuproptosis in neuro-oncology and guide future research directions. - Source: PubMed
Publication date: 2026/09/15
Li PengpengGao YangyangLiu Wei - Copper is a widespread heavy metal pollutant in aquatic ecosystems, but the systemic molecular mechanisms of copper-induced hepatotoxicity in fish remain incompletely understood. Here, we integrated histopathological examination, biochemical assays, transcriptomics, and metabolomics to investigate the hepatotoxic effects of copper sulfate (CuSO₄) exposure in Oreochromis niloticus. CuSO₄ exposure caused typical pathological damage, including hepatocyte swelling, vacuolar degeneration, and pyknosis. Biochemical assays revealed significantly reduced activities of superoxide dismutase (SOD) and catalase (CAT), decreased glutathione (GSH) content, and elevated malondialdehyde (MDA) levels, indicating severe oxidative stress. Transcriptomic analysis identified 896 differentially expressed genes (DEGs) enriched in pathways related to lipid and fatty acid metabolism, cytochrome P450, and PPAR signaling. Metabolomic analysis detected 738 differentially expressed metabolites (DEMs), primarily involved in glutathione metabolism, oxidative phosphorylation, and amino acid metabolism. Integrated multi-omics analysis uncovered two core mechanisms: depletion of the glutathione system (significantly reduced GSH and GSSG) and energy metabolic reprogramming (marked decreases in NADH, citrate, and acylcarnitines). Concurrently, immune- and inflammation-related genes (IL1B, IL8, C3, C7) were strongly upregulated. Notably, copper homeostasis genes (ATP7B, CP) were downregulated, suggesting that copper accumulation may drive mitochondrial dysfunction and metabolic collapse. In conclusion, CuSO₄ induces hepatotoxicity in tilapia primarily by triggering oxidative stress, which is characterized by glutathione depletion and disruption of energy and lipid metabolic homeostasis. These findings provide multi-omics evidence for understanding copper toxicity and offer potential biomarkers for environmental risk assessment of copper pollution in aquatic ecosystems. - Source: PubMed
Publication date: 2026/09/24
Chen JianjieHan QianxiLiu BoCheng YanfenHuang TingLuo YongjuCao Jinling - Wilson disease is a prototypical disorder of copper metabolism in which hepatic copper overload drives progressive liver injury and fibrosis, yet the molecular mechanisms linking copper accumulation to fibrogenesis remain poorly defined. Here, we identify osteopontin (OPN) as a copper-responsive hepatokine that mechanistically couples copper overload to hepatic stellate cell activation. Using ATP7B-deficient models, we show that hepatic copper accumulation is accompanied by liver injury, inflammatory infiltration, and fibrotic remodeling, together with marked induction of OPN. In hepatocytes, copper exposure led to intracellular copper accumulation and oxidative stress, resulting in robust upregulation and secretion of OPN, which was partially attenuated by antioxidant treatment. Conditioned medium from copper-stressed hepatocytes promoted stellate cell activation and extracellular matrix deposition, whereas genetic depletion of SPP1 in hepatocytes markedly blunted these pro-fibrotic effects, establishing OPN as a key paracrine mediator of copper-induced hepatocyte-stellate cell crosstalk. Clinically, hepatic and circulating OPN levels were significantly elevated in patients with Wilson disease and closely associated with copper burden, fibrosis severity, and liver stiffness. Moreover, serum OPN independently predicted histological fibrosis with good diagnostic performance. Collectively, these findings reveal a copper-driven secretory pathway that links disrupted copper homeostasis to liver fibrogenesis and highlight OPN as a metal-responsive mediator and potential biomarker in Wilson disease. - Source: PubMed
Publication date: 2026/09/26
Li YingjieWu YaoyiWang SujuanZhou Ning