Results 11 to 20 of about 6,030 (184)

Expression of ATP7B in normal human liver

European Journal of Histochemistry, 2009
ATP7B is a copper transporting P-type ATPase, also known as Wilson disease protein, which plays a key role in copper distribution inside cells.
D Fanni, L Pilloni, S Orrù, P Coni
doaj   +5 more sources

A case of a mild Wolfram Syndrome with concomitant ATP7B mutation [PDF]

CellR4, 2019
Background: Wolfram Syndrome 1 (WS1) has been characterized on the basis of mutation in the WFS1 gene encoding a calcium storage wolframin endoplasmatic reticulum transmembrane glycoprotein.
R. Squitti, G. Cerchiaro, I. Giovannoni, P. Francalanci, M. Siotto, P. Maffei, C. Ricordi, M. Rongioletti   +7 more
doaj   +4 more sources

SOX2 Inhibits Cuproptosis to Affect Cisplatin Resistance in Non-Small Cell Lung Cancer by Activating the Wnt/ATP7B Signaling Pathway. [PDF]

Kaohsiung J Med Sci
ABSTRACT Cisplatin (CDDP) resistance constitutes the principal clinical challenge in the treatment of advanced non‐small cell lung cancers (NSCLC). Disturbances in copper metabolism are closely linked with tumor drug resistance. SOX2, a pivotal stemness transcription factor (TF), holds an important role in chemotherapy resistance.
Chen K, He FM, Huang YH, Fang T, Zheng YP, Cai JF.   +5 more
europepmc   +2 more sources

Structure of the Wilson disease copper transporter ATP7B [PDF]

Science Advances, 2022
ATP7A and ATP7B, two homologous copper-transporting P1B-type ATPases, play crucial roles in cellular copper homeostasis, and mutations cause Menkes and Wilson diseases, respectively. ATP7A/B contains a P-type ATPase core consisting of a membrane transport domain and three cytoplasmic domains, the A, P, and N domains, and a unique amino terminus ...
Ryan M. Bitter, SeCheol Oh, Zengqin Deng, Suhaila Rahman, Richard K. Hite, Peng Yuan   +5 more
openaire   +3 more sources

Functional Interactions of Cu-ATPase ATP7B with Cisplatin and the Role of ATP7B in the Resistance of Cells to the Drug [PDF]

Journal of Biological Chemistry, 2009
Cisplatin is a widely used chemotherapeutic agent for treatment of ovarian, testicular, lung, and stomach cancers. The initial response to the drug is robust; however, tumor cells commonly develop resistance to cisplatin, which complicates treatment.
Karoline, Leonhardt, Rolf, Gebhardt, Joachim, Mössner, Svetlana, Lutsenko, Dominik, Huster   +4 more
openaire   +2 more sources

Single nucleotide polymorphisms in the humanATP7Bgene modify the properties of the ATP7B protein [PDF]

Metallomics, 2019
AbstractSingle nucleotide polymorphisms (SNPs) are the largest source of sequence variation in the human genome. However, their functional significance is not well understood. We show that SNPs in the Wilson disease gene, ATP7B, that produce amino-acid substitutions K832R and R952K, modulate ATP7B properties in vitro and influence serum copper (Cu ...
Courtney J, McCann, Samuel, Jayakanthan, Mariacristina, Siotto, Nan, Yang, Maria, Osipova, Rosanna, Squitti, Svetlana, Lutsenko   +6 more
openaire   +2 more sources

Wilson’s Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings [PDF]

Journal of Clinical and Diagnostic Research, 2013
Wilson’s Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients.
Mani Kant Kumar, Vijay Kumar, Praphul Kumar Singh   +2 more
doaj   +1 more source

Targeted Perturbation of Mitochondrial Energy Metabolism via Thermoelectric Nanoflowers for Enhanced Cuproptosis Echoed With Immunotherapy [PDF]

Advanced science
We fabricated a thermoelectric nanomedicine to disrupt the ATP energy supply for the copper transporter ATP7B, thereby enhancing cuproptosis and achieving synergistic immunotherapy for anti‐tumor purposes. The fabricated TBCT NFs can efficiently disrupt the electron transport chain function via superoxide‐induced NADH oxidation, leading to ATP ...
Du H, Xu C, Wang H, Peng B, Liu P, Gao W, Ye T, Yu X, Shi Y, Liu J, Zhao T, Sun B, Yang P, Zhang M.   +13 more
europepmc   +2 more sources

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam

Molecular Genetics and Metabolism Reports, 2022
Background: Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the ATP7B gene. In this study, we screened and identified the ATP7B mutations among unrelated Vietnamese pediatric patients ...
Nguyen Thi Mai Huong, Nguyen Pham Anh Hoa, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Pham Hai Yen, Hoàng Thị Vân Anh, Giang Hoa, Tran Minh Dien   +7 more
doaj   +1 more source

Stimulation of Liver Fibrosis by N2 Neutrophils in Wilson’s DiseaseSummary

Cellular and Molecular Gastroenterology and Hepatology, 2023
Background & Aims: Wilson’s disease is an inherited hepatoneurologic disorder caused by mutations in the copper transporter ATP7B. Liver disease from Wilson’s disease is one leading cause of cirrhosis in adolescents. Current copper chelators and zinc
Xiaoxiao Mi, Yu Song, Chaohua Deng, Jian Yan, Zhihui Li, Yingniang Li, Jun Zheng, Wenjun Yang, Ling Gong, Junping Shi   +9 more
doaj   +1 more source