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https://www.readbyqxmd.com/read/29397366/rare-disease-mechanisms-identified-by-genealogical-proteomics-of-copper-homeostasis-mutant-pedigrees
#1
Stephanie A Zlatic, Alysia Vrailas-Mortimer, Avanti Gokhale, Lucas J Carey, Elizabeth Scott, Reid Burch, Morgan M McCall, Samantha Rudin-Rush, John Bowen Davis, Cortnie Hartwig, Erica Werner, Lian Li, Michael Petris, Victor Faundez
Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteomes from their disease-free consanguineous relatives. We use triple-SILAC mass spectrometry to quantify proteomes from human pedigrees affected by mutations in ATP7A, which cause Menkes disease, a rare neurodegenerative and neurodevelopmental disorder stemming from systemic copper depletion...
January 30, 2018: Cell Systems
https://www.readbyqxmd.com/read/29394468/copper-efflux-transporters-atp7a-and-atp7b-novel-biomarkers-for-platinum-drug-resistance-and-targets-for-therapy
#2
REVIEW
Yue-Qin Li, Ji-Ye Yin, Zhao-Qian Liu, Xiang-Ping Li
Platinum-based chemotherapy agents are widely used in the treatment of various solid malignancies. However, their efficacy is limited by drug resistance. Recent studies suggest that copper efflux transporters, which are encoded by ATP7A and ATP7B, play an important role in platinum drug resistance. Over-expressions of ATP7A and ATP7B are observed in multiple cancers. Moreover, their expressions are associated with cancer prognosis and treatment outcomes of platinum-based chemotherapy. In our review, we highlight the roles of ATP7A/7B in platinum drug resistance and cancer progression...
February 2, 2018: IUBMB Life
https://www.readbyqxmd.com/read/29351582/sco2-mutations-cause-early-onset-axonal-charcot-marie-tooth-disease-associated-with-cellular-copper-deficiency
#3
Adriana P Rebelo, Dimah Saade, Claudia P Pereira, Amjad Farooq, Tyler C Huff, Lisa Abreu, Carlos T Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A Schon, Stephan Zuchner, Michael E Shy
Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth disease type 4. Different from previously described cases, our patients developed predominantly motor neuropathy, they survived infancy, and they have not yet developed the cardiomyopathy that causes death in early infancy in reported patients...
January 16, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29333545/dynamic-changes-in-copper-homeostasis-and-post-transcriptional-regulation-of-atp7a-during-myogenic-differentiation
#4
Katherine E Vest, Amanda L Paskavitz, Joseph B Lee, Teresita Padilla-Benavides
Copper (Cu) is an essential metal required for activity of a number of redox active enzymes that participate in critical cellular pathways such as metabolism and cell signaling. Because it is also a toxic metal, Cu must be tightly controlled by a series of transporters and chaperone proteins that regulate Cu homeostasis. The critical nature of Cu is highlighted by the fact that mutations in Cu homeostasis genes cause pathologic conditions such as Menkes and Wilson diseases. While Cu homeostasis in highly affected tissues like the liver and brain is well understood, no study has probed the role of Cu in development of skeletal muscle, another tissue that often shows pathology in these conditions...
January 15, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29325617/wilson-disease-and-related-copper-disorders
#5
Matthew T Lorincz
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described, most of which are missense mutations. Mutations in both ATP7B alleles result in abnormal copper metabolism and subsequent toxic accumulation of copper...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29301787/akt2-stabilizes-atp7a-a-copper-transporter-for-sod3-extracellular-superoxide-dismutase-in-vascular-smooth-muscles-novel-mechanism-to-limit-endothelial-dysfunction-in-type-2-diabetes-mellitus
#6
Varadarajan Sudhahar, Mustafa Nazir Okur, Zsolt Bagi, John P O'Bryan, Nissim Hay, Ayako Makino, Vijay S Patel, Shane A Phillips, David Stepp, Masuko Ushio-Fukai, Tohru Fukai
OBJECTIVE: Copper transporter ATP7A (copper-transporting/exporting ATPase) is required for full activation of SOD3 (extracellular superoxide dismutase), which is secreted from vascular smooth muscle cells (VSMCs) and anchors to endothelial cell surface to preserve endothelial function by scavenging extracellular superoxide. We reported that ATP7A protein expression and SOD3 activity are decreased in insulin-deficient type 1 diabetes mellitus vessels, thereby, inducing superoxide-mediated endothelial dysfunction, which are rescued by insulin treatment...
January 4, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29232129/the-effect-of-structural-modifications-to-glyoxalbis-thiosemicarbazanoto-copper-ii-complexes-on-cellular-copper-uptake-copper-mediated-atp7a-trafficking-and-p-glycoprotein-mediated-efflux
#7
Karla M Acevedo, David J Hayne, Lachlan E McInnes, Asif Noor, Clare Duncan, Diane Moujalled, Irene Volitakis, Angela Rigopoulos, Kevin Jeffrey Barnham, Victor L Villemagne, Anthony R White, Paul S Donnelly
Bis(thiosemicarbazonato)copper(II) complexes are of interest as potential therapeutics for cancer and neurodegenerative diseases as well as imaging agents for positron emission tomography (PET). The cellular uptake of six bis(thiosemcarbazonato)copper(II)complexes derived from glyoxal, with different functional groups, Cu(gtsx) where x = different functional groups, was investigated in SKOV-3, HEK293 and HEK293 P-gp cell lines. Treatment of the cells with the copper complexes increased intracellular copper and increased levels of p-ERK due to activation of the Ras-Raf-MEK-ERK pathway...
December 12, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29168020/copper-chaperone-antioxidant-1-atox-1-is-involved-in-the-induction-of-sod3-in-thp-1-cells
#8
Tetsuro Kamiya, Kosuke Takeuchi, Saki Fukudome, Hirokazu Hara, Tetsuo Adachi
Superoxide dismutase (SOD) 3, a copper (Cu)-containing anti-oxidative enzyme, plays a key role in extracellular redox homeostasis. Cu chaperone antioxidant-1 (Atox-1) not only delivers Cu ions to SOD3 at the trans-Golgi network, it also functions as a transcription factor of SOD3; however, the role of Atox-1 in the regulation of SOD3 during the monocytic differentiation of THP-1 cells has not yet been elucidated. A treatment with 12-O-tetradecanoylphorbol-13-acetate (TPA) induced the expression of the Cu transport protein ATP7A in THP-1 cells...
November 22, 2017: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/29151946/gene-expression-profiling-reveals-novel-candidate-markers-of-ovarian-carcinoma-intraperitoneal-metastasis
#9
Katerina Elsnerova, Alena Bartakova, Josef Tihlarik, Jiri Bouda, Lukas Rob, Petr Skapa, Martin Hruda, Ivan Gut, Beatrice Mohelnikova-Duchonova, Pavel Soucek, Radka Vaclavikova
Epithelial ovarian cancer (EOC) has the highest mortality among gynecological carcinomas. The lack of specific markers for prognostic determination of EOC progression hinders the search for novel effective therapies. The aim of the present study was (i) to explore differences in expressions of ATP-binding cassette (ABC) and solute carrier (SLC) transporter genes, genes associated with drug metabolism and cell cycle regulation between control ovarian tissues (n = 14), primary EOCs (n = 44) and intraperitoneal metastases (n = 29); (ii) to investigate associations of gene expression levels with prognosis of patients with intraperitoneal metastases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29121854/monitoring-interactions-inside-cells-by-advanced-spectroscopies-overview-of-copper-transporters-and-cisplatin
#10
Alessia Lasorsa, Giovanni Natile, Antonio Rosato, Francesco Tadini-Buoninsegni, Fabio Arnesano
BACKGROUND: Resistance, either at the onset of the treatment or developed after an initial positive response, is a major limitation of antitumor therapy. In the case of platinum-based drugs, copper transporters have been found to interfere with drug trafficking by facilitating the import or favoring the platinum export and inactivation. METHODS: The use of powerful spectroscopic, spectrometric and computational methods have allowed a deep structural insight into the mode of interaction of platinum drugs with the metal-binding domains of the transporter proteins...
November 10, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29112372/tuning-the-color-palette-of-fluorescent-copper-sensors-through-systematic-heteroatom-substitution-at-rhodol-cores
#11
Shang Jia, Karla M Ramos-Torres, Safacan Kolemen, Cheri M Ackerman, Christopher J Chang
Copper is an essential nutrient for sustaining life, and emerging data have expanded the roles of this metal in biology from its canonical functions as a static enzyme cofactor to dynamic functions as a transition metal signal. At the same time, loosely bound, labile copper pools can trigger oxidative stress and damaging events that are detrimental if misregulated. The signal/stress dichotomy of copper motivates the development of new chemical tools to study its spatial and temporal distributions in native biological contexts such as living cells...
November 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29080449/peumus-boldus-attenuates-copper-induced-toxicity-in-drosophila-melanogaster
#12
Cláudia Vargas Klimaczewski, Assis Ecker, Bruna Piccoli, Michael Aschner, Nilda Vargas Barbosa, João Batista Teixeira Rocha
Peumus boldus (P. boldus) is a medicinal plant popularly used in the treatment of gastrointestinal disorders. P. boldus aqueous extract is rich in phenolic compounds and alkaloids that possess antiinflammatory and antioxidant effects. In the present study, the potential protective effect of P. boldus against Cu(2+)-induced toxicity was investigated. Adult Drosophila melanogaster were exposed to Cu(2+) (1mM and 3mM) and/or P. boldus aqueous extract (5mg/mL) in the food during 4days. Cu(2+)-fed flies had impairment in the negative geotaxis performance (i...
October 30, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29058724/a-crispr-screen-identifies-a-pathway-required-for-paraquat-induced-cell-death
#13
Colleen R Reczek, Kıvanç Birsoy, Hyewon Kong, Inmaculada Martínez-Reyes, Tim Wang, Peng Gao, David M Sabatini, Navdeep S Chandel
Paraquat, a herbicide linked to Parkinson's disease, generates reactive oxygen species (ROS), which causes cell death. Because the source of paraquat-induced ROS production remains unknown, we conducted a CRISPR-based positive-selection screen to identify metabolic genes essential for paraquat-induced cell death. Our screen uncovered three genes, POR (cytochrome P450 oxidoreductase), ATP7A (copper transporter), and SLC45A4 (sucrose transporter), required for paraquat-induced cell death. Furthermore, our results revealed POR as the source of paraquat-induced ROS production...
December 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28965584/identification-of-eight-copper-cu-uptake-related-genes-from-yellow-catfish-pelteobagrus-fulvidraco-and-their-tissue-expression-and-transcriptional-responses-to-dietborne-cu-exposure
#14
Jie Cheng, Zhi Luo, Guang-Hui Chen, Chuan-Chuan Wei, Mei-Qin Zhuo
The present working hypothesis is that absorption of dietary Cu is related to mRNA expressions of genes involved in Cu uptake and transport of the intestine in fish. To this end, the full-length cDNA sequences of eight Cu uptake related genes, including two isoforms of copper transporter genes (ctr1 and ctr2), three copper chaperone genes (atox1, ccs and cox17), two Cu-ATPase genes (atp7a and atp7b) and divalent metal ion transporter 1 (dmt1), were cloned and characterized in yellow catfish P. fulvidraco, respectively...
December 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28931909/organ-specific-regulation-of-atp7a-abundance-is-coordinated-with-systemic-copper-homeostasis
#15
Haarin Chun, Tracy Catterton, Heejeong Kim, Jaekwon Lee, Byung-Eun Kim
Copper (Cu) is an essential cofactor for various enzymatic activities including mitochondrial electron transport, iron mobilization, and peptide hormone maturation. Consequently, Cu dysregulation is associated with fatal neonatal disease, liver and cardiac dysfunction, and anemia. While the Cu transporter ATP7A plays a major role in both intestinal Cu mobilization to the periphery and prevention of Cu over-accumulation, it is unclear how regulation of ATP7A contributes to Cu homeostasis in response to systemic Cu fluctuation...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28926893/-effect-of-intratumor-heterogeneity-of-esophageal-squamous-cell-carcinoma-on-chemotherapy-sensitivity
#16
L Sun, W Wu, M Yan, P L Han, X Zhan, X W Ma, X G Cao, S Zhao, F Gao, Y Qi, W Cao
Objective: To investigate the relationship of heterogeneity of esophageal squamous cell carcinoma (ESCC) and chemotherapy sensitivity. Methods: Five different region specimens isolated from primary tumor(R1~R5)and 1 specimen(R6)isolated from adjacent non-neoplastic tissue from 10 ESCC patients who underwent surgical treatment were cultured in vitro. The inhibitory effect of cisplatin on proliferation of ESCC cells from different regions was determined by methyl thiazolyl tetrazolium (MTT). The cell cycle and apoptosis induced by cisplatin was determined by flow cytometry (FCM) analysis...
September 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28820536/atp7a-and-atp7b-regulate-copper-homeostasis-in-developing-male-germ-cells-in-mice
#17
Mateusz Ogórek, Małgorzata Lenartowicz, Rafał Starzyński, Aneta Jończy, Robert Staroń, Andrzej Doniec, Wojciech Krzeptowski, Aleksandra Bednarz, Olga Pierzchała, Paweł Lipiński, Zenon Rajfur, Zbigniew Baster, Patrycja Gibas-Tybur, Paweł Grzmil
The maintenance of copper homeostasis is critical for all cells. As learned from mice with disturbed copper metabolism, this trace element is also important for spermatogenesis. The experiments conducted in yeasts have demonstrated that appropriate copper level must be preserved to enable meiosis progression; however, increased copper level is toxic for cells. This study aims to analyze the expression profile of Atp7a and Atp7b and other genes encoding copper-related proteins during spermatogenesis in mice...
September 20, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28819394/a-role-for-the-atp7a-copper-transporter-in-tumorigenesis-and-cisplatin-resistance
#18
Sha Zhu, Vinit Shanbhag, Yanfang Wang, Jaekwon Lee, Michael Petris
The ATP7A protein is a ubiquitously expressed copper-translocating P-type ATPase that controls cytoplasmic copper concentrations by mediating cellular copper egress. In vitro studies have previously demonstrated that ATP7A abundance in various tumor cell lines is correlated with increased resistance to cisplatin, a widely-used chemotherapy agent. However, to date no studies have examined a role for ATP7A in tumor growth or cisplatin sensitivity in vivo. In this study, we deleted ATP7A in H-RAS transformed tumorigenic mouse embryonic fibroblasts (MEF(RAS)7A-)...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28763775/heat-indicators-of-oxidative-stress-inflammation-and-metal-transport-show-dependence-of-cadmium-pollution-history-in-the-liver-of-female-zebrafish
#19
Qing-Ling Zhu, Sai-Nan Guo, Shuang-Shuang Yuan, Zhen-Ming Lv, Jia-Lang Zheng, Hu Xia
Environmental stressors such as high temperature and metal exposure may occur sequentially, simultaneously, previously in aquatic ecosystems. However, information about whether responses to high temperature depend on Cd exposure history is still unknown in fish. Zebrafish were exposed to 0 (group 1), 2.5 (group 2) and 5μg/L (group 3) cadmium (Cd) for 10 weeks, and then each group was subjected to Cd-free water maintained at 26°C and 32°C for 7days respectively. 26 indicators were used to compare differences between 26°C and 32°C in the liver of female zebrafish, including 5 biochemical indicators (activity of Cu/Zn-SOD, CAT and iNOS; LPO; MT protein), 8 molecular indicators of oxidative stress (mRNA levels of Nrf2, Cu/Zn-SOD, CAT, HSF1, HSF2, HSP70, MTF-1 and MT), 5 molecular indicators of inflammation (mRNA levels of IL-6, IL-1β, TNF-α, iNOS and NF-κB), 8 molecular indicators of metal transport (mRNA levels of, ZnT1, ZnT5, ZIP8, ZIP10, ATP7A, ATP7B and CTR1)...
July 20, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28761814/a-novel-nonsense-atp7a-pathogenic-variant-in-a-family-exhibiting-a-variable-occipital-horn-syndrome-phenotype
#20
Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A > T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather than classic Menkes disease, was found to segregate in the family. The predicted maintenance of transmembrane domains is consistent with a residual protein activity, which may explain the mild clinical presentation.
December 2017: Molecular Genetics and Metabolism Reports
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