ATP7B Control Peptide antibody _CP
- Known as:
- ATP7B Control Peptide (anti-) _CP
- Catalog number:
- 'AP17142CP-N
- Product Quantity:
- 0.1 mg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- ATP7B Control Peptide antibody _CP
Related genes to: ATP7B Control Peptide antibody _CP
- 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 Control Peptide antibody _CP
Related articles to: ATP7B Control Peptide antibody _CP
- Wilson disease (WD) is caused due to mutations in the copper ATPase gene ATP7B, resulting in accumulation of copper and the consequent disruption of cellular redox balance through reactive oxygen species generation. Current therapies mainly depend on copper chelation to lower metal burden which sometimes also strip copper from cuproproteins and disturb key physiological copper-dependent processes. It also does not directly suppress pathological copper reactivity i.e., free radical generation, a major driver of WD progression. To overcome these limitations, we have rationally designed Gua-Cu-3, a C-symmetric guanidinium-based non-toxic molecule that can chelate labile copper without metal stripping from cuproproteins due to moderate binding affinity and it has intrinsic antioxidant activity within a single nanosheet-forming supramolecular self-assembly. Spectroscopic, calorimetric, and computational analyses revealed multivalent copper coordination (K = 95.4 μM) while radical-scavenging and hydroxyl-radical inhibition assays revealed redox-regulatory activity. In copper loaded hepatocytes, Gua-Cu-3 reduces ATP7B trafficking from trans-Golgi network, confirming effective intracellular copper sequestration. This was accompanied by a marked reduction in oxidative stress readouts, i.e., translocation of Nrf2 in nucleus and of HO-1 expression, thereby limiting lipid peroxidation and restoration of ER and mitochondrial health. Gua-Cu-3 attenuates oxidative stress in ATP7B-homolog-deficient Caenorhabditis elegans and rescues copper-induced developmental defects in zebrafish, outperforming D-penicillamine, which is currently in use for WD management. These findings establish Gua-Cu-3 with a therapeutic potential that couples-controlled copper sequestration with redox regulation and provides a framework for treating WD and other disorders associated with metal dyshomeostasis and oxidative stress. - Source: PubMed
Publication date: 2026/08/17
Pandey RaviranjanRoy Arpan NSarkar SandipDutta KrishanuBhattacharya DebosmitaJaiswar AkhileshDas SoumadipGhosh TamalGoswami KalyanPatra ChinmoyDas AmitavaGupta Arnab - Although metabolic, viral, and drug- and alcohol-related etiologies are a familiar part of the evaluation of elevated liver enzymes, less common causes include autoimmune hepatitis, Wilson disease, and hereditary hemochromatosis. Each has a progressive course to end-organ damage underscoring the importance of early recognition, as effective therapies are available. Autoimmune hepatitis is an immune-mediated liver disease, with a female predominance and autoantibodies present in about 80% of cases. It can progress rapidly without treatment. Liver biopsy featuring lymphoplasmacytic hepatitis is needed for diagnosis and to determine the intensity of immunosuppression. Wilson disease is caused by biallelic variants in the ATP7B gene resulting in copper accumulation in the liver, brain, kidneys, and corneas. Diagnosis relies on clinical findings, laboratory data, and genetic testing results. Lifelong chelation therapy is required. Hereditary hemochromatosis is characterized by iron overload, usually due to a common variant in the HFE gene with variable disease penetrance; it is prevalent in people of Northern European ancestry. Untreated hemochromatosis leads to cirrhosis and hepatocellular carcinoma. Early diagnosis and initiation of phlebotomy can result in normal life expectancy. To facilitate early diagnosis, genetic testing of first-degree relatives is recommended for those with Wilson disease or hemochromatosis. - Source: PubMed
Darling Jama M - Wilson disease (WD) is a hereditary disorder of copper metabolism caused by mutations in the ATP7B gene; the Chinese population exhibits a unique, high-frequency mutation profile centered on the R778L and P992L mutations. This article provides a narrative review of the genetic evolution, molecular pathogenic mechanisms, phenotypic heterogeneity, and precision diagnosis and treatment strategies for high-frequency ATP7B mutations in the Chinese WD population. The high-frequency enrichment of R778L and P992L is speculated to arise from the combined effects of CpG mutation hotspots and the founder effect supported by East Asian haplotype data, with distinct geographical distributions and relatively conserved haplotypes observed in existing cohorts. Functional studies indicate that the R778L variant disrupts the transmembrane domain and induces severe protein misfolding associated with an early-onset hepatic phenotype, whereas the P992L mutation partially retains catalytic function and tends to present neurological manifestations in many clinical cohorts, though individual phenotypic variation remains substantial. Preclinical molecular chaperone and gene editing strategies offer potential mechanistic targets for mutation-specific intervention, yet their clinical translation remains at an immature stage with insufficient human trial data. In the future, it will be necessary to establish multicenter cohorts, advance mutation-targeted therapies, and develop a precision diagnosis and treatment system covering the entire disease lifecycle. - Source: PubMed
Publication date: 2026/07/31
Xuan QiaoyuHua DaipingSun LantingMa QiyanYang WenmingWang Han - To explore the clinical application value of Expanded Carrier Screening (ECS) in preconception and prenatal populations in Yinchuan. - Source: PubMed
Publication date: 2026/07/31
Han HuaZhu XiaoyanChai LifenHa YingchunZhao FuyingPan Lihua - This study aimed to links between ATP7B, CTR1, GPX4, 53BP1, p-H2AX and p-ATM expression, platinum sensitivity and prognosis in patients with epithelial ovarian cancer (EOC). - Source: PubMed
Publication date: 2026/08/13
Gao MaiWang Xuan FengLong QianYang DanZhu HongZhu Jun