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https://www.readbyqxmd.com/read/28089327/ceruloplasmin-gene-expression-profile-changes-in-the-rat-mammary-gland-during-pregnancy-lactation-and-involution
#1
Natalia A Platonova, Iurii A Orlov, Sergey A Klotchenko, Victor S Babich, Ekaterina Y Ilyechova, Polina S Babich, Yuri P Garmai, Andrey V Vasin, Nadezhda V Tsymbalenko, Liudmila V Puchkova
Copper metabolism disturbances in mammary gland (MG) cells have severe consequences in newborns. The mechanism that controls the balance of copper in the MG has not been thoroughly characterized. Four primary copper homeostasis genes in mammals: (1) ceruloplasmin (Cp) encoding multifunction multicopper blue (ferr)oxidase; (2) CTR1 encoding high affinity copper importer 1; and (3 and 4) two similar genes encoding Cu(I)/Cu(II)-ATPases P1 type (ATP7A and ATP7B) responsible for copper efflux from the cells and metallation of cuproenzymes formed in the Golgi complex are expressed in MG...
January 3, 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28063745/canine-copper-associated-hepatitis
#2
REVIEW
Karen Dirksen, Hille Fieten
Copper-associated hepatitis is recognized with increasing frequency in dogs. The disease is characterized by centrolobular hepatic copper accumulation, leading to hepatitis and eventually cirrhosis. The only way to establish the diagnosis is by histologic assessment of copper distribution and copper quantification in a liver biopsy. Treatment with the copper chelator d-penicillamine is the most commonly used treatment. In addition, a low-copper/high-zinc diet can help prevent accumulation or reaccumulation of hepatic copper...
January 5, 2017: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/28029585/interaction-between-airborne-copper-exposure-and-atp7b-polymorphisms-on-inattentiveness-in-scholar-children
#3
S Alemany, N Vilor-Tejedor, M Bustamante, M Álvarez-Pedrerol, I Rivas, J Forns, X Querol, J Pujol, J Sunyer
Recent research indicates that airborne copper exposure in scholar children negatively affects brain functioning. These effects are likely to be influenced by the efficiency of copper metabolism, which is partly regulated by the ATPase copper transporting beta (ATP7B) gene. We investigated whether indoor and outdoor airborne copper exposure is differentially associated with child inattentiveness depending on genetic variation within the ATP7B gene in 1645 scholar children from the BREATHE project. Outdoor (courtyard) and indoor (classroom) air pollution levels were measured during class hours in each school...
October 22, 2016: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28008856/interaction-between-airborne-copper-exposure-and-atp7b-polymorphisms-on-inattentiveness-in-scholar-children
#4
S Alemany, N Vilor-Tejedor, M Bustamante, M Álvarez-Pedrerol, I Rivas, J Forns, X Querol, J Pujol, J Sunyer
Recent research indicates that airborne copper exposure in scholar children negatively affects brain functioning. These effects are likely to be influenced by the efficiency of copper metabolism, which is partly regulated by the ATPase copper transporting beta (ATP7B) gene. We investigated whether indoor and outdoor airborne copper exposure is differentially associated with child inattentiveness depending on genetic variation within the ATP7B gene in 1645 scholar children from the BREATHE project. Outdoor (courtyard) and indoor (classroom) air pollution levels were measured during class hours in each school...
January 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/27992490/intragenic-deletions-in-atp7b-as-an-unusual-molecular-genetics-mechanism-of-wilson-s-disease-pathogenesis
#5
Theodor Todorov, Prahlad Balakrishnan, Alexey Savov, Piotr Socha, Hartmut H J Schmidt
Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B resulting in copper overload in the liver and brain. Direct sequencing is routinely used to confirm WD diagnosis; however, partial and whole gene deletions in the heterozygous state cannot be detected by exon amplification since the normal allele will mask its presence. The aim of the present work was to search for unusual mutational events in the unexplained WD cases and to provide insight into the mechanisms. Out of 1420 clinically and biochemically confirmed WD samples received between 2000 and 2014 for routine mutation analysis, we were unable to detect mutant alleles in 142 samples, after extensive sequencing analysis...
2016: PloS One
https://www.readbyqxmd.com/read/27982432/spectrum-of-atp7b-mutations-and-genotype-phenotype-correlation-in-a-large-scale-chinese-patients-with-wilson-disease
#6
Nan Cheng, Huagui Wang, Weili Wu, Renmin Yang, Licheng Liu, Yongzhu Han, Liping Guo, Jiyuan Hu, Lizhi Xu, Jinyin Zhao, Yongsheng Han, Qi Liu, Kai Li, Xun Wang, Weijun Chen
Wilson disease, an inherited disorder associated with ATP7B gene, has a wide spectrum of genotypes and phenotypes. In this study, we developed a rapid multiplex PCR MassArray method for detecting 110 mutant alleles of interest, and used it to examine genomic DNA from 1222 patients and 110 healthy controls. In patients not found to have any mutation in the 110 selected alleles, PCR-Sanger sequencing was used to examine the ATP7B gene. We identified 88 mutations, including nine novel mutations. Our analyses revealed p...
December 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27980217/the-association-between-copper-transporters-and-the-prognosis-of-cancer-patients-undergoing-chemotherapy-a-meta-analysis-of-literatures-and-datasets
#7
REVIEW
Si Sun, Jing Cai, Qiang Yang, Simei Zhao, Zehua Wang
Copper transporter 1 (CTR1), copper transporter 2 (CTR2), copper-transporting p-type adenosine triphosphatase 1 and 2 (ATP7A and ATP7B) are key mediators of cellular cisplatin, carboplatin and oxaliplatin accumulation. In this meta-analysis, we aimed to evaluate the relation of CTR1, CTR2, ATP7A and ATP7B to overall survival (OS), progression-free survival (PFS), disease-free survival (DFS) and treatment response (TR) of cancer patients who received chemotherapy based on published literatures, the Gene Expression Omnibus (GEO) and the Cancer Genome Atlas (TCGA) datasets...
December 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27935710/quantification-of-atp7b-protein-in-dried-blood-spots-by-peptide-immuno-srm-as-a-potential-screen-for-wilson-s-disease
#8
Sunhee Jung, Jeffrey R Whiteaker, Lei Zhao, Han-Wook Yoo, Amanda G Paulovich, Si Houn Hahn
Wilson's Disease (WD), a copper transport disorder caused by a genetic defect in the ATP7B gene, has been a long time strong candidate for newborn screening (NBS), since early interventions can give better results by preventing irreversible neurological disability or liver cirrhosis. Several previous pilot studies measuring ceruloplasmin (CP) in infants or children showed that this marker alone was insufficient to meet the universal screening for WD. WD results from mutations that cause absent or markedly diminished levels of ATP7B...
December 9, 2016: Journal of Proteome Research
https://www.readbyqxmd.com/read/27934216/ctr1-intracellular-loop-is-involved-in-the-copper-transfer-mechanism-to-the-atox1-metallochaperone
#9
Ariel R Levy, Matan Nissim, Netanel Mendelman, Jordan Chill, Sharon Ruthstein
Understanding the human copper cycle is essential to understand the role of metals in promoting neurological diseases and disorders. One of the cycles controlling the cellular concentration and distribution of copper involves the copper transporter, Ctr1; the metallochaperone, Atox1; and the ATP7B transporter. It has been shown that the C-terminus of Ctr1, specifically the last three amino acids, HCH, is involved in both copper coordination and the transfer mechanism to Atox1. In contrast, the role of the intracellular loop of Ctr1, which is an additional intracellular segment of Ctr1, in facilitating the copper transfer mechanism has not been investigated yet...
December 8, 2016: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/27930511/four-year-follow-up-of-a-wilson-disease-pedigree-complicated-with-epilepsy-and-hypopituitarism-case-report-with-a-literature-review
#10
Qi-Jie Zhang, Liu-Qing Xu, Chong Wang, Wei Hu, Ning Wang, Wan-Jin Chen
RATIONALE: Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. PATIENT CONCERNS: The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27896900/molecular-features-of-copper-binding-proteins-involved-in-copper-homeostasis
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
December 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
#17
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
#18
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
#19
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
#20
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
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