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https://www.readbyqxmd.com/read/28271598/dynamics-of-the-metal-binding-domains-and-regulation-of-the-human-copper-transporters-atp7b-and-atp7a
#1
REVIEW
Corey H Yu, Natalia V Dolgova, Oleg Y Dmitriev
Copper transporters ATP7A and ATP7B regulate copper levels in the human cells and deliver copper to the biosynthetic pathways. ATP7A and ATP7B belong to the P-type ATPases and share much of the domain architecture and the mechanism of ATP hydrolysis with the other, well-studied, enzymes of this type. A unique structural feature of the copper ATPases is the chain of six cytosolic metal-binding domains (MBDs), which are believed to be involved in copper-dependent regulation of the activity and intracellular localization of these enzymes...
March 8, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28265897/wilson-s-disease-in-china
#2
REVIEW
Juan-Juan Xie, Zhi-Ying Wu
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in western countries. ATP7B is the causative gene and encodes a P-type ATPase, which participates in the synthesis of holoceruloplasmin and copper excretion. Disease-causing variants of ATP7B disrupt the normal structure or function of the enzyme and cause copper deposition in multiple organs, leading to diverse clinical manifestations. Given the variety of presentations, misdiagnosis is not rare...
March 6, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28164604/linkage-analysis-based-on-four-microsatellite-markers-to-screen-for-unknown-mutation-in-families-with-wilson-disease
#3
Farzane Arianfar, Majid Fardaei
BACKGROUND: Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism due to mutations in ATP7B gene on the chromosome 13. Linkage analysis using microsatellite markers is a powerful screening technique to identify mutant chromosomes especially in affected families with unknown mutations. Previous studies in southern Iran have failed to identify mutations in the ATP7B in some clinically diagnosed cases. Hence, the present study was undertaken to provide a screening method for these WD affected families...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28164426/mechanisms-of-charge-transfer-in-human-copper-atpases-atp7a-and-atp7b
#4
REVIEW
Francesco Tadini-Buoninsegni, Serena Smeazzetto
ATP7A and ATP7B are Cu(+) -transporting ATPases of subclass IB and play a fundamental role in intracellular copper homeostasis. ATP7A/B transfer Cu(+) ions across the membrane from delivery to acceptor proteins without establishing a free Cu(+) gradient. Transfer of copper across the membrane is coupled to ATP hydrolysis. Current measurements on solid supported membranes (SSM) were performed to investigate the mechanism of copper-related charge transfer across ATP7A and ATP7B. SSM measurements demonstrated that electrogenic copper displacement occurs within ATP7A/B following addition of ATP and formation of the phosphorylated intermediate...
February 5, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28130615/age-dependent-changes-of-cerebral-copper-metabolism-in-atp7b-knockout-mouse-model-of-wilson-s-disease-by-64-cu-cucl2-pet-ct
#5
Fang Xie, Yin Xi, Juan M Pascual, Otto Muzik, Fangyu Peng
Copper is a nutritional metal required for brain development and function. Wilson's disease (WD), or hepatolenticular degeneration, is an inherited human copper metabolism disorder caused by a mutation of the ATP7B gene. Many WD patients present with variable neurological and psychiatric symptoms, which may be related to neurodegeneration secondary to copper metabolism imbalance. The objective of this study was to explore the feasibility and use of copper-64 chloride ([(64)C]CuCl2) as a tracer for noninvasive assessment of age-dependent changes of cerebral copper metabolism in WD using an Atp7b (-/-) knockout mouse model of WD and positron emission tomography/computed tomography (PET/CT) imaging...
January 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28119449/in-vivo-modeling-of-the-pathogenic-effect-of-copper-transporter-mutations-that-cause-menkes-and-wilson-diseases-motor-neuropathy-and-susceptibility-to-alzheimer-s-disease
#6
Stephen W Mercer, Jianbin Wang, Richard Burke
Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes ATP7A and ATP7B, respectively. Missense mutations in the C-terminal portion of ATP7A have also been shown to cause distal motor neuropathy, whereas polymorphisms in ATP7B are associated with increased risk of Alzheimer's disease...
March 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28107647/programmed-ribosomal-frameshifting-generates-a-copper-transporter-and-a-copper-chaperone-from-the-same-gene
#7
Sezen Meydan, Dorota Klepacki, Subbulakshmi Karthikeyan, Tõnu Margus, Paul Thomas, John E Jones, Yousuf Khan, Joseph Briggs, Jonathan D Dinman, Nora Vázquez-Laslop, Alexander S Mankin
Metal efflux pumps maintain ion homeostasis in the cell. The functions of the transporters are often supported by chaperone proteins, which scavenge the metal ions from the cytoplasm. Although the copper ion transporter CopA has been known in Escherichia coli, no gene for its chaperone had been identified. We show that the CopA chaperone is expressed in E. coli from the same gene that encodes the transporter. Some ribosomes translating copA undergo programmed frameshifting, terminate translation in the -1 frame, and generate the 70 aa-long polypeptide CopA(Z), which helps cells survive toxic copper concentrations...
January 19, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28089327/ceruloplasmin-gene-expression-profile-changes-in-the-rat-mammary-gland-during-pregnancy-lactation-and-involution
#8
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
#9
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
#10
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
#11
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
#12
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-large-scale-chinese-patients-with-wilson-disease
#13
N Cheng, H Wang, W Wu, R Yang, L Liu, Y Han, L Guo, J Hu, L Xu, J Zhao, Y Han, Q Liu, K Li, X Wang, W Chen
Wilson disease (WD), 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 9 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
#14
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
#15
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
#16
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
#17
REVIEW
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
#18
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
#19
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
#20
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
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