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https://www.readbyqxmd.com/read/28665070/identification-of-downstream-genes-of-the-mtor-pathway-that-predict-recurrence-and-progression-in-non-muscle-invasive-high-grade-urothelial-carcinoma-of-the-bladder
#1
Subin Jin, In Ho Chang, Jin Wook Kim, Young Mi Whang, Ha Jeong Kim, Soon Auck Hong, Tae Jin Lee
Microarray analysis was used to investigate the lack of identified mammalian target of rapamycin (mTOR) pathway downstream genes to overcome cross-talk at non-muscle invasive high-grade (HG)-urothelial carcinoma (UC) of the bladder, gene expression patterns, gene ontology, and gene clustering by triple (p70S6K, S6K, and eIF4E) small interfering RNAs (siRNAs) or rapamycin in 5637 and T24 cell lines. We selected mTOR pathway downstream genes that were suppressed by siRNAs more than 2-fold, or were up-regulated or down-regulated by rapamycin more than 2-fold...
August 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28657131/a-37-years-old-menkes-disease-patient-residual-atp7a-activity-and-early-copper-administration-as-key-factors-in-beneficial-treatment
#2
Zeynep Tümer, Michael Petris, Sha Zhu, Julian Mercer, Jens Bukrinski, Stefan Bilz, Kurt Baerlocher, Nina Horn, Lisbeth B Møller
Menkes disease is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective intracellular copper transporting protein, ATP7A. Early parenteral copper-histidine supplementation may modify disease progression substantially but beneficial effects of long-term treatment have been recorded in only a few patients. Here we report on the eldest surviving Menkes disease patient (37 years) receiving early-onset and long-term copper treatment...
June 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28652309/host-and-pathogen-copper-transporting-p-type-atpases-function-antagonistically-during-salmonella-infection
#3
Erik Ladomersky, Aslam Khan, Vinit Shanbhag, Jennifer S Cavet, Jefferson Chan, Gary A Weisman, Michael J Petris
Copper is an essential, yet potentially toxic trace element that is required by all aerobic organisms. A key regulator of copper homeostasis in mammalian cells is the copper transporting P-type ATPase, ATP7A, which mediates copper transport from the cytoplasm into the secretory pathway, as well as copper export across the plasma membrane. Previous studies have shown that ATP7A-dependent copper transport is required for killing phagocytosed Escherichia coli in a cultured macrophage cell line. Herein, we expand on these studies by generating Atp7a(LysMcre) mice in which the Atp7a gene was specifically deleted in cells of the myeloid lineage including macrophages...
June 26, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/28636017/effect-of-cisplatin-on-the-transport-activity-of-pii-type-atpases
#4
Francesco Tadini-Buoninsegni, Giacomo Sordi, Serena Smeazzetto, Giovanni Natile, Fabio Arnesano
Cisplatin (cis-diamminedichlorido-Pt(ii)) is extensively used as a chemotherapeutic agent against various types of tumors. However, cisplatin administration causes serious side effects, including nephrotoxicity, ototoxicity and neurotoxicity. It has been shown that cisplatin can interact with P-type ATPases, e.g., Cu(+)-ATPases (ATP7A and ATP7B) and Na(+),K(+)-ATPase. Cisplatin-induced inhibition of Na(+),K(+)-ATPase has been related to the nephrotoxic effect of the drug. To investigate the inhibitory effects of cisplatin on the pumping activity of PII-type ATPases, electrical measurements were performed on sarcoplasmic reticulum Ca(2+)-ATPase (SERCA) and Na(+),K(+)-ATPase embedded in vesicles/membrane fragments adsorbed on a solid-supported membrane...
July 19, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28551160/copper-transporter-1-in-human-colorectal-cancer-cell-lines-effects-of-endogenous-and-modified-expression-on-oxaliplatin-cytotoxicity
#5
Haigang Cui, Anna J Zhang, Mark J McKeage, Louise M Nott, Dominic Geraghty, Nuri Guven, Johnson J Liu
Oxaliplatin-based chemotherapy is the mainstay for the treatment of advanced colorectal cancer. Copper transporter proteins have been implicated in the transport of platinum-based anticancer drugs, but their expression in human colorectal cancer cell lines and roles in controlling their sensitivity to oxaliplatin are not well studied or understood. The endogenous and modified expression of copper uptake transporter 1 (hCTR1) was studied in a panel of human colorectal cancer cell lines (DLD-1, SW620, HCT-15 and COLO205) with ~20-fold variation in oxaliplatin sensitivity...
April 25, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/28451781/13-novel-putative-mutations-in-atp7a-found-in-a-cohort-of-25-italian-families
#6
Paola de Gemmis, Maria Vittoria Enzo, Elisa Lorenzetto, Paola Cattelan, Daniela Segat, Uros Hladnik
ATP7A is a copper-transporting P-type adenosine triphosphatase whose loss of function leads to the Menkes disease, an X-linked copper metabolism multi-organ disorder (1 in 100.000 births). Here we document our experience with the ATP7A linked diseases in Italy. We analyzed the exonic structure of the ATP7A gene in 25 unrelated Italian families and studied the variants of unknown significance. We identified 22 different DNA alterations, 13 of which first reported in this study. The classical Menkes phenotype was present in 21 of the 25 families and was linked with highly damaging mutations (7 nonsense; 4 frame-shift; 2 small in-frame deletions, 2 splice site alterations, 2 gross deletions, and 1 gross duplication)...
August 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28409271/unique-presentation-of-cutis-laxa-with-leigh-like-syndrome-due-to-echs1-deficiency
#7
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade...
April 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28397223/-analysis-of-clinical-features-and-genetic-mutations-in-a-chinese-family-affected-with-menkes-disease
#8
Xiaorong Shi, Xi Lin, Zhonglin Ke, Shuqing Chen, Bin Wu, Guiling Mo
OBJECTIVE: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease. METHODS: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene. RESULTS: The patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397151/identification-of-novel-atp7a-mutations-and-prenatal-diagnosis-in-chinese-patients-with-menkes-disease
#9
Binbin Cao, Xiaoping Yang, Yinyin Chen, Qionghui Huang, Ye Wu, Qiang Gu, Jiangxi Xiao, Huixia Yang, Hong Pan, Junya Chen, Yu Sun, Li Ren, Chengfeng Zhao, Yanhua Deng, Yanling Yang, Xingzhi Chang, Zhixian Yang, Yuehua Zhang, Zhengping Niu, Juli Wang, Xiru Wu, Jingmin Wang, Yuwu Jiang
Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Serum ceruloplasmin/copper tested in 19 patients was low. Abnormal classic features of MD presented in the MRI/MRA of 19 patients. Seventeen mutations of ATP7A were identified in 22 patients. Twelve were novel mutations including three small deletion/insertion, one missense mutation, two nonsense mutations, three splicing-site mutations, and three gross deletions...
August 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28389643/characterization-of-atp7a-missense-mutants-suggests-a-correlation-between-intracellular-trafficking-and-severity-of-menkes-disease
#10
Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Gourdon, Lisbeth Birk Møller
Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golgi compartments and the plasma membrane at higher concentrations. Here we have analyzed the effect of 36 ATP7A missense mutations identified in phenotypically different MD patients. Nine mutations identified in patients with severe MD, virtually eliminated ATP7A synthesis, in most cases due to aberrant RNA splicing...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28380026/the-role-of-subcutaneous-adipose-tissue-in-supporting-the-copper-balance-in-rats-with-a-chronic-deficiency-in-holo-ceruloplasmin
#11
Ekaterina Y Ilyechova, Nadezhda V Tsymbalenko, Ludmila V Puchkova
We have previously shown that (1) an acute deficiency in blood serum holo-ceruloplasmin (Cp) developed in rats that were fed fodder containing silver ions (Ag-fodder) for one month and (2) the deficiency in holo-Cp was compensated by non-hepatic holo-Cp synthesis in rats that were chronically fed Ag-fodder for 6 months (Ag-rats). The purpose of the present study is to identify the organ(s) that compensate for the hepatic holo-Cp deficiency in the circulation. This study was performed on rats that were fed Ag-fodder (40 mg Ag·kg-1 body mass daily) for 6 months...
2017: PloS One
https://www.readbyqxmd.com/read/28355134/the-interactome-of-the-copper-transporter-atp7a-belongs-to-a-network-of-neurodevelopmental-and-neurodegeneration-factors
#12
Heather S Comstra, Jacob McArthy, Samantha Rudin-Rush, Cortnie Hartwig, Avanti Gokhale, Stephanie A Zlatic, Jessica B Blackburn, Erica Werner, Michael Petris, Priya D'Souza, Parinya Panuwet, Dana Boyd Barr, Vladimir Lupashin, Alysia Vrailas-Mortimer, Victor Faundez
Genetic and environmental factors, such as metals, interact to determine neurological traits. We reasoned that interactomes of molecules handling metals in neurons should include novel metal homeostasis pathways. We focused on copper and its transporter ATP7A because ATP7A null mutations cause neurodegeneration. We performed ATP7A immunoaffinity chromatography and identified 541 proteins co-isolating with ATP7A. The ATP7A interactome concentrated gene products implicated in neurodegeneration and neurodevelopmental disorders, including subunits of the Golgi-localized conserved oligomeric Golgi (COG) complex...
March 29, 2017: ELife
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#13
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28271632/the-role-of-insufficient-copper-in-lipid-synthesis-and-fatty-liver-disease
#14
REVIEW
Austin Morrell, Savannah Tallino, Lei Yu, Jason L Burkhead
The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper balance to human health. The severe consequences of insufficient copper supply are illustrated by Menkes disease, caused by mutation in the X-linked ATP7A gene encoding a protein that transports copper from intestinal epithelia into the bloodstream and across the blood-brain barrier...
April 2017: IUBMB Life
https://www.readbyqxmd.com/read/28271598/dynamics-of-the-metal-binding-domains-and-regulation-of-the-human-copper-transporters-atp7b-and-atp7a
#15
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/28219768/copper-therapy-reduces-intravascular-hemolysis-and-derepresses-ferroportin-in-mice-with-mosaic-mutation-atp7a-mo-ms-an-implication-for-copper-mediated-regulation-of-the-slc40a1-gene-expression
#16
Małgorzata Lenartowicz, Rafał R Starzyński, Aneta Jończy, Robert Staroń, Justyna Antoniuk, Wojciech Krzeptowski, Paweł Grzmil, Aleksandra Bednarz, Olga Pierzchała, Mateusz Ogórek, Zenon Rajfur, Zbigniew Baster, Paweł Lipiński
Mosaic mutant mice displaying functional dysfunction of Atp7a copper transporter (the Menkes ATPase) are an established animal model of Menkes disease and constitute a convenient tool for investigating connections between copper and iron metabolisms. This model allows to explore changes in iron metabolism in suckling mutant mice suffering from systemic copper deficiency as well as in young and adult ones undergone copper therapy, which reduces lethal effect of the Atp7a gene mutation. Our recent study demonstrated that 14-day-old mosaic mutant males display blood cell abnormalities associated with intravascular hemolysis, and show disturbances in the functioning of the hepcidin-ferroportin regulatory axis, which controls systemic iron homeostasis...
February 20, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28164426/mechanisms-of-charge-transfer-in-human-copper-atpases-atp7a-and-atp7b
#17
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/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
#18
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/28115001/host-cell-copper-transporters-ctr1-and-atp7a-are-important-for-influenza-a-virus-replication
#19
Jonathan C Rupp, Manon Locatelli, Alexis Grieser, Andrea Ramos, Patricia J Campbell, Hong Yi, John Steel, Jason L Burkhead, Eric Bortz
BACKGROUND: The essential role of copper in eukaryotic cellular physiology is known, but has not been recognized as important in the context of influenza A virus infection. In this study, we investigated the effect of cellular copper on influenza A virus replication. METHODS: Influenza A/WSN/33 (H1N1) virus growth and macromolecule syntheses were assessed in cultured human lung cells (A549) where the copper concentration of the growth medium was modified, or expression of host genes involved in copper homeostasis was targeted by RNA interference...
January 23, 2017: Virology Journal
https://www.readbyqxmd.com/read/28089327/ceruloplasmin-gene-expression-profile-changes-in-the-rat-mammary-gland-during-pregnancy-lactation-and-involution
#20
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
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