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https://www.readbyqxmd.com/read/27896900/molecular-features-of-copper-binding-proteins-involved-in-copper-homeostasis
#1
REVIEW
Giuseppe Inesi
Copper has a wide and important role in biological systems, determining conformation and activity of many metalloproteins and enzymes, such as cytochrome oxidase and superoxide dismutase . Furthermore, due to its possible reactivity with nonspecific proteins and toxic effects, elaborate systems of absorption, concentration buffering, delivery to specific protein sites and elimination, require a complex system including small carriers, chaperones and active transporters. The P-type copper ATPases ATP7A and ATP7B provide an important system for acquisition, active transport, distribution and elimination of copper...
November 28, 2016: IUBMB Life
https://www.readbyqxmd.com/read/27878136/phenotypic-convergence-of-menkes-and-wilson-disease
#2
Boglarka Bansagi, David Lewis-Smith, Endre Pal, Jennifer Duff, Helen Griffin, Angela Pyle, Juliane S Müller, Gabor Rudas, Zsuzsanna Aranyi, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.(1,2) About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.(2) The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27877224/the-role-of-copper-transporter-atp7a-in-platinum-resistance-of-esophageal-squamous-cell-cancer-escc
#3
Zhuang-Hua Li, Rongjie Zheng, Jing-Tang Chen, Jun Jia, Miaozhen Qiu
Purpose: Platinum derivatives, such as cisplatin (DDP), carboplatin and oxaliplatin, are widely used components of modern cancer chemotherapy including esophageal squamous cell cancer (ESCC). However, their roles are limited by the impact of intrinsic/acquired resistance mechanisms on tumor responses. Recent studies have shown that the mammalian copper transporters CTR1, ATP7A and ATP7B are involved in cisplatin-resistance to some cancers. Methods: The cytotoxicities of DDP in different cell lines were determined using the MTT assay...
2016: Journal of Cancer
https://www.readbyqxmd.com/read/27830552/demonstrating-potential-of-cell-therapy-for-wilson-s-disease-with-the-long-evans-cinnamon-rat-model
#4
Fadi Luc Jaber, Yogeshwar Sharma, Sanjeev Gupta
Wilson's disease (WD) is characterized by the inability to excrete copper (Cu) from the body with progressive tissue injury, especially in liver and brain. The molecular defect in WD concerns mutations in ATP7B gene leading to loss of Cu transport from the hepatocyte to the bile canaliculus. While drugs, e.g., Cu chelators, have been available for several decades, these must be taken lifelong, which can be difficult due to issues of compliance or side effects. Many individuals may require liver transplantation, which can also be difficult due to donor organ shortages...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27779244/predictive-value-of-atp7b-brca1-brca2-parp1-uimc1-rap80-hoxa9-daxx-txn-trx1-thbs1-tsp1-and-prr13-txr1-genes-in-patients-with-epithelial-ovarian-cancer-who-received-platinum-taxane-first-line-therapy
#5
S Pontikakis, C Papadaki, M Tzardi, M Trypaki, M Sfakianaki, F Koinis, E Lagoudaki, L Giannikaki, A Kalykaki, E Kontopodis, Z Saridaki, N Malamos, V Georgoulias, J Souglakos
To evaluate the predictive value of genes involved in resistance to platinum-taxane chemotherapy in patients with epithelial ovarian cancer (EOC). Microdissected formalin-fixed tumoral samples from 187 EOC patients' primary tumors (90 and 97 samples from matched patients in the experimental and validation sets, respectively) were analyzed. All specimens were analyzed for ATP7b, BRCA1, BRCA2, PARP1, UIMC1(RAP80), HOXA9, DAXX, TXN (TRX1), THBS1 (TSP1) and PRR13 (TXR1) mRNA expression by quantitative real-time PCR...
October 25, 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27748801/acquisition-of-anticancer-drug-resistance-is-partially-associated-with-cancer-stemness-in-human-colon-cancer-cells
#6
Flaria El Khoury, Laurent Corcos, Stéphanie Durand, Brigitte Simon, Catherine Le Jossic-Corcos
Colorectal cancer (CRC) is one of the most aggressive cancers worldwide. Several anticancer agents are available to treat CRC, but eventually cancer relapse occurs. One major cause of chemotherapy failure is the emergence of drug-resistant tumor cells, suspected to originate from the stem cell compartment. The aim of this study was to ask whether drug resistance was associated with the acquisition of stem cell-like properties. We isolated drug-resistant derivatives of two human CRC cell lines, HT29 and HCT116, using two anticancer drugs with distinct modes of action, oxaliplatin and docetaxel...
October 7, 2016: International Journal of Oncology
https://www.readbyqxmd.com/read/27744583/disease-causing-point-mutations-in-metal-binding-domains-of-wilson-disease-protein-decrease-stability-and-increase-structural-dynamics
#7
Ranjeet Kumar, Candan Ariöz, Yaozong Li, Niklas Bosaeus, Sandra Rocha, Pernilla Wittung-Stafshede
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disease protein (ATP7B) for incorporation into Cu-dependent enzymes in the secretory pathway. Human ATP7B is a large multi-domain membrane-spanning protein which, in contrast to homologues in other organisms, has six similar cytoplasmic metal-binding domains (MBDs). The reason for multiple MBDs is proposed to be indirect modulation of enzymatic activity and it is thus intriguing that point mutations in MBDs can promote Wilson disease...
October 15, 2016: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/27743981/a-microbial-peptide-to-rescue-severe-and-fulminant-wilson-disease
#8
Serge Erlinger
Wilson disease is characterized by massive copper overload caused by a mutation of the liver-specific copper-transporting ATPase, ATP7B. Presently, liver transplantation is the only treatment available to patients with advanced or acute liver disease. In this paper, the authors describe the therapeutic effect of methanobactin, a potent bacterial copper-binding protein, in a rat model of Wilson disease, the Atp7b(-/-) rat. Their results show a marked improvement of clinical, biochemical and ultrastructural abnormalities...
December 2016: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/27714068/a-systems-biology-approach-reveals-new-endoplasmic-reticulum-associated-targets-for-the-correction-of-the-atp7b-mutant-causing-wilson-disease
#9
Mafalda Concilli, Simona Iacobacci, Giancarlo Chesi, Annamaria Carissimo, Roman Polishchuk
Copper (Cu) is an important trace element required for the activity of essential enzymes. However, excess Cu compromises the redox balance in cells and tissues causing serious toxicity. The process of disposal of excess Cu from organisms relies on the activity of Cu-transporting ATPase ATP7B. ATP7B is mainly expressed in liver hepatocytes where it sequesters the potentially toxic metal and mediates its excretion into the bile. Mutations in the ATP7B gene cause Wilson disease (WD), which is characterized by the accumulation of toxic Cu in the liver due to the scarce expression of ATP7B as well as the failure of ATP7B mutants to pump Cu and/or traffic to the Cu-excretion sites...
September 1, 2016: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/27706781/direct-sequencing-of-mutations-in-the-copper-transporting-p-type-adenosine-triphosphate-atp7b-gene-for-diagnosis-and-pathogenesis-of-wilson-s-disease
#10
D F Zhang, J F Teng
Copper-transporting P-type adenosine triphosphatase (ATP7B) has been identified as the pathogenic gene in hepatolenticular degeneration, or Wilson's disease (WD). The aim of this study was to explore the correlation between genetic mutations and the clinical profile of WD, and to discuss the value of mutation examination in its diagnosis for providing a scientific basis for the development of a method to examine genetic mutations. Sixty-eight Chinese Han patients with WD and 20 controls were included in this study...
September 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27638368/development-and-evaluation-of-an-unlabeled-probe-high-resolution-melting-assay-for-detection-of-atp7b-mutations-in-wilson-s-disease
#11
Anjian Xu, Tingxia Lv, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jian Huang
BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive disorder characterized by the deposition of copper mainly in the liver or nerve system that leads to their dysfunction. Mutations in the gene encoding ATPase, Cu+ transporting, beta polypeptide (ATP7B) are causative for WD. The aim of this study was to develop a rapid and convenient assay for detection of the three most common causative ATP7B mutations, p.R778L, p.P992L, and p.V1106I. METHODS: Plasmids containing DNA fragments harboring each of the three ATP7B mutations were constructed...
September 17, 2016: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/27592149/recent-advance-in-the-molecular-genetics-of-wilson-disease-and-hereditary-hemochromatosis
#12
REVIEW
Tingxia Lv, Xiaojin Li, Wei Zhang, Xinyan Zhao, Xiaojuan Ou, Jian Huang
Metabolic liver diseases such as Wilson disease (WD) and hereditary hemochromatosis (HH) possess complicated pathogenesis and typical hereditary characteristics with the hallmarks of a deficiency in metal metabolism. Mutations in genes encoding ATPase, Cu + transporting, beta polypeptide (ATP7B) and hemochromatosis (HFE) or several non-HFE genes are considered to be causative for WD and HH, respectively. Although the identification of novel mutations in ATP7B for WD and HFE or the non-HFE genes for HH has increased, especially with the application of whole genome sequencing technology in recent years, the biological function of the identified mutations, as well as genotype-phenotype correlations remain to be explored...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27587995/metal-dependent-regulation-of-atp7a-and-atp7b-in-fibroblast-cultures
#13
Malgorzata Lenartowicz, Torben Moos, Mateusz Ogórek, Thomas G Jensen, Lisbeth B Møller
Deficiency of one of the copper transporters ATP7A and ATP7B leads to the rare X-linked disorder Menkes Disease (MD) or the rare autosomal disorder Wilson disease (WD), respectively. In order to investigate whether the ATP7A and the ATP7B genes may be transcriptionally regulated, we measured the expression level of the two genes at various concentrations of iron, copper, and insulin. Treating fibroblasts from controls or from individuals with MD or WD for 3 and 10 days with iron chelators revealed that iron deficiency led to increased transcript levels of both ATP7A and ATP7B...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27523629/modulation-of-hepatic-copper-atpase-activity-by-insulin-and-glucagon-involves-protein-kinase-a-pka-signaling-pathway
#14
Elaine Hilário-Souza, Martine Cuillel, Elisabeth Mintz, Peggy Charbonnier, Adalberto Vieyra, Doris Cassio, Jennifer Lowe
Different studies have revealed copper imbalance in individuals suffering from diabetes and obesity, suggesting that regulation of glucose and/or fat metabolism could modulate cellular copper homeostasis. To test this hypothesis we investigated whether the key hormones of energy metabolism, insulin and glucagon, regulate the functional properties of the major hepatic copper-transporter, ATP7B (i.e., copper-dependent ATPase activity). We demonstrated that insulin reverses the effect of copper and stimulates retrograde trafficking of ATP7B from the canalicular membranes, consistent with the enhanced ability of ATP7B to sequester copper away from the cytosol...
November 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27509383/effects-of-waterborne-cu-exposure-on-intestinal-copper-transport-and-lipid-metabolism-of-synechogobius-hasta
#15
Feng Chen, Zhi Luo, Guang-Hui Chen, Xi Shi, Xu Liu, Yu-Feng Song, Ya-Xiong Pan
The present study was conducted to explore the effects of waterborne Cu exposure on intestinal Cu transport and lipid metabolism of Synechogobius hasta. S. hasta were exposed to 0, 0.4721 and 0.9442μM Cu, respectively. Sampling occurred on days 0, 21 and 42, respectively. Growth performance, intestinal lipid deposition, Cu content, and activities and mRNA expression of enzymes and genes involved in Cu transport and lipid metabolism were analyzed. Cu exposure decreased WG and SGR on days 21 and 42. Cu exposure increased intestinal Cu and lipid contents...
September 2016: Aquatic Toxicology
https://www.readbyqxmd.com/read/27499926/rapid-and-reliable-diagnosis-of-wilson-disease-using-x-ray-fluorescence
#16
Slávka Kaščáková, Cameron M Kewish, Stéphan Rouzière, Françoise Schmitt, Rodolphe Sobesky, Joël Poupon, Christophe Sandt, Bruno Francou, Andrea Somogyi, Didier Samuel, Emmanuel Jacquemin, Anne Dubart-Kupperschmitt, Tuan Huy Nguyen, Dominique Bazin, Jean-Charles Duclos-Vallée, Catherine Guettier, François Le Naour
Wilson's disease (WD) is a rare autosomal recessive disease due to mutations of the gene encoding the copper-transporter ATP7B. The diagnosis is hampered by the variability of symptoms induced by copper accumulation, the inconstancy of the pathognomonic signs and the absence of a reliable diagnostic test. We investigated the diagnostic potential of X-ray fluorescence (XRF) that allows quantitative analysis of multiple elements. Studies were performed on animal models using Wistar rats (n = 10) and Long Evans Cinnamon (LEC) rats (n = 11), and on human samples including normal livers (n = 10), alcohol cirrhosis (n = 8), haemochromatosis (n = 10), cholestasis (n = 6) and WD (n = 22)...
July 2016: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/27499330/non-ceruloplasmin-bound-copper-and-atp7b-gene-variants-in-alzheimer-s-disease
#17
R Squitti, M Siotto, M Arciello, L Rossi
ATP7B, a protein mainly expressed in the hepatocytes, is a copper chaperone that loads the metal into the serum copper-protein ceruloplasmin during its synthesis and also escorts superfluous copper into the bile, by a sophisticated trafficking mechanism. Impaired function of this ATPase is associated with a well-known inborn error of copper metabolism, Wilson's disease (WD). Several mutations of ATP7B are known, involving different regions of the protein, thus resulting in a plethora of phenotypes in WD patients...
September 1, 2016: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/27455805/-copper-metabolism-and-genetic-disorders
#18
Norikazu Shimizu
Copper is one of essential trace elements. Copper deficiency lead to growth and developmental failure and/or neurological dysfunction. However, excess copper is also problems for human life. There are two disorders of inborn error of copper metabolism, Menkes disease and Wilson disease. Menkes disease is an X linked recessive disorder with copper deficiency and Wilson disease is an autosomal recessive disorder with copper accumulation. These both disorders result from the defective functioning of copper transport P-type ATPase, ATP7A of Menkes disease and ATP7B of Wilson disease...
July 2016: Nihon Rinsho. Japanese Journal of Clinical Medicine
https://www.readbyqxmd.com/read/27398169/mutational-analysis-of-atp7b-in-chinese-wilson-disease-patients
#19
Rui Hua, Fang Hua, Yonggeng Jiao, Yu Pan, Xu Yang, Shanshan Peng, Junqi Niu
Wilson Disease (WD) is an inborn error of copper metabolism inherited in an autosomal recessive manner caused by the mutations in the P-type ATPase gene (ATP7B). In this study, we screen and detect the mutations of the ATP7B gene in unrelated Chinese WD patients. A total of 68 individuals from ten provinces of China with WD were recruited. Of them, 43 were males and 25 were females, and their onset ages were from 1 to 48 years with a median onset age of 22.2 years. All the exons and exon/intron boundaries of ATP7B gene of the patients were sequenced and aligned to the referred ATP7B gene sequence...
2016: American Journal of Translational Research
https://www.readbyqxmd.com/read/27379771/evidence-for-a-role-for-the-putative-drosophila-hgrx1-orthologue-in-copper-homeostasis
#20
Stephen W Mercer, Richard Burke
Glutaredoxins are a family of small molecular weight proteins that have a central role in cellular redox regulation. Human GRX1 (hGRX1) has also been shown to play an integral role in copper homeostasis by regulating the redox activity of the metalated sites of copper chaperones such as ATOX1 and SOD1, and the copper efflux proteins ATP7A and ATP7B. To further elucidate the role of hGRX1 in copper homeostasis, we examined the impact of RNA interference-mediated knockdown of CG6852, a putative Drosophila orthologue of hGRX1...
August 2016: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
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