keyword
MENU ▼
Read by QxMD icon Read
search

ATP7B

keyword
https://www.readbyqxmd.com/read/29930488/multiplex-ligation-dependent-probe-amplification-analysis-subsequent-to-direct-dna-full-sequencing-for-identifying-atp7b-mutations-and-phenotype-correlations-in-children-with-wilson-disease
#1
Jung Ok Shim, Hye Ran Yang, Jin Soo Moon, Ju Young Chang, Jae Sung Ko, Sung Sup Park, Jeong Kee Seo
Background: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with large deletions or insertions. The aim of this study was to evaluate whether the detection rate of ATP7B mutations can be increased by using MLPA. Methods: We enrolled 114 children with WD from 104 unrelated families based on biochemical tests and direct DNA full sequencing...
June 25, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29914392/three-novel-mutations-in-the-atp7b-gene-of-unrelated-vietnamese-patients-with-wilson-disease
#2
Nguyen Thi Mai Huong, Nguyen Thi Kim Lien, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Nguyen Pham Anh Hoa, Le Thanh Hai, Phan Van Chi, Ta Thanh Van, Tran Van Khanh, Nguyen Huy Hoang
BACKGROUND: Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting ATPase...
June 18, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29898862/presence-of-the-p-l456v-polymorphism-in-cuban-patients-clinically-diagnosed-with-wilson-s-disease
#3
Y Clark-Feoktistova, C Ruenes-Domech, E F García-Bacallao, H Roblejo-Balbuena, L Feoktistova, I Clark-Feoktistova, O Jay-Herrera, T Collazo-Mesa
INTRODUCTION AND AIMS: Wilson's disease is characterized by the accumulation of copper in different organs, mainly affecting the liver, brain, and cornea, and is caused by mutations in the ATP7B gene. More than 120 polymorphisms in the ATP7B gene have been reported in the medical literature. The aim of the present study was to identify the conformational changes in the exon 3 region of the ATP7B gene and detect the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease...
June 10, 2018: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29882374/the-interactions-between-iron-and-copper-in-genetic-iron-overload-syndromes-and-primary-copper-toxicoses-in-japan
#4
REVIEW
Yasuaki Tatsumi, Ayako Kato, Koichi Kato, Hisao Hayashi
AIM: Iron and copper are trace elements essential for health, and iron metabolism is tightly regulated by cuproproteins. Clarification of the interactions between iron and copper may provide a better understanding of the pathophysiology and treatment strategy for hemochromatosis, Wilson disease, and related disorders. METHODS: The hepcidin/ferroportin system was used to classify genetic iron overload syndromes in Japan, and ceruloplasmin and ATP7B were introduced for subtyping Wilson disease into the severe hepatic and classical forms...
June 7, 2018: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/29772714/modulating-chemosensitivity-of-tumors-to-platinum-based-antitumor-drugs-by-transcriptional-regulation-of-copper-homeostasis
#5
REVIEW
Yu-Hsuan Lai, Chin Kuo, Macus Tien Kuo, Helen H W Chen
Platinum (Pt)-based antitumor agents have been effective in treating many human malignancies. Drug importing, intracellular shuffling, and exporting-carried out by the high-affinity copper (Cu) transporter ( hCtr1 ), Cu chaperone (Ato x1), and Cu exporters (ATP7A and ATP7B), respectively-cumulatively contribute to the chemosensitivity of Pt drugs including cisplatin and carboplatin, but not oxaliplatin. This entire system can also handle Pt drugs via interactions between Pt and the thiol-containing amino acid residues in these proteins; the interactions are strongly influenced by cellular redox regulators such as glutathione...
May 16, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29763364/the-loss-of-copper-is-associated-with-the-increase-in-copper-metabolism-murr-domain-1-in-ischemic-hearts-of-mice
#6
Kui Li, Chen Li, Ying Xiao, Tao Wang, Y James Kang
The distribution of copper (Cu) in the biological system is regulated by Cu transporters and chaperones. It has been known for a long time that myocardial ischemia is accompanied by the loss of Cu from the heart, but the mechanism by which this occurs remains unknown. The present study was undertaken to understand the relationship between Cu loss and alterations in Cu transporters during the pathogenesis of myocardial ischemia. Male mice (C57 BL/6J) were subjected to left anterior descending (LAD) coronary artery ligation to induce myocardial ischemia...
May 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29761093/functional-characterization-of-novel-atp7b-variants-for-diagnosis-of-wilson-disease
#7
Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H Schmidt
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease. Methods: The medical history, clinical presentation, biochemical parameters, and the genetic analysis of ATP7B were determined...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29732486/metallothionein-is-elevated-in-liver-and-duodenum-of-atp7b-mice
#8
Chengcheng Christine Zhang, Martin Volkmann, Sabine Tuma, Wolfgang Stremmel, Uta Merle
Different mutations in the copper transporter gene Atp7b are identified as the primary cause of Wilson's disease. These changes result in high copper concentrations especially in the liver and brain, and consequently lead to a dysfunction of these organs. The Atp7(-/-) mouse is an established animal model for Wilson's disease and characterized by an abnormal copper accumulation, a low serum oxidase activity and an increased copper excretion in urine. Metallothionein (MT) proteins are low molecular weight metal-binding proteins and essential for the zinc homeostasis but also play a role for the regulation of other metals, e...
May 7, 2018: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/29674751/characterization-of-the-most-frequent-atp7b-mutation-causing-wilson-disease-in-hepatocytes-from-patient-induced-pluripotent-stem-cells
#9
Silvia Parisi, Elena V Polishchuk, Simona Allocca, Michela Ciano, Anna Musto, Maria Gallo, Lucia Perone, Giusy Ranucci, Raffaele Iorio, Roman S Polishchuk, Stefano Bonatti
H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population. ATP7B localizes to the Golgi complex in hepatocytes but moves in response to copper overload to the endo-lysosomal compartment to support copper excretion via bile canaliculi. In heterologous or hepatoma-derived cell lines, overexpressed ATP7B-H1069Q is strongly retained in the ER and fails to move to the post-Golgi sites, resulting in toxic copper accumulation. However, this pathogenic mechanism has never been tested in patients' hepatocytes, while animal models recapitulating this form of WD are still lacking...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29668570/value-of-serum-zinc-in-diagnosing-and-assessing-severity-of-liver-disease-in-children-with-wilson-disease
#10
Palittiya Sintusek, Eirini Kyrana, Anil Dhawan
Supplemental Digital Content is available in the textABSTRACT OBJECTIVES:: Wilson disease (WD) is a rare inborn error of copper metabolism with diverse manifestations. There has been no study of zinc (Zn), the copper's antagonist, in WD diagnosis and severity so far. Our aims were to evaluate serum Zn in WD and its correlation with the disease severity score (revised WD index). Although the ATP7B mutation analysis is highly accurate for WD diagnosis, it may not be readily available in a resource-limiting setting...
April 17, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29649982/identification-and-characterization-of-a-novel-43-bp-deletion-mutation-of-the-atp7b-gene-in-a-chinese-patient-with-wilson-s-disease-a-case-report
#11
Gang Liu, Dingyuan Ma, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang, Zhengfeng Xu
BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson's disease. CASE PRESENTATION: We describe a male case of Wilson's disease diagnosed at 10 years after routine biochemical test that showed low serum ceruloplasmin levels and Kayser-Fleischer rings in both corneas. Analysis of the ATP7B gene revealed compound heterozygous mutations in the proband, including the reported c...
April 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29627895/toosendanin-mediates-cisplatin-sensitization-through-targeting-annexin-a4-atp7a-in-non-small-cell-lung-cancer-cells
#12
Mao Dong Zheng, Nai Dong Wang, Xiao Liang Li, Juan Yan, Jian Hua Tang, Xiu Hua Zhao, Zhihua Zhang
Cisplatin (CDDP) is used in the treatment of non-small cell lung cancer (NSCLC), but due to the development of resistance, the benefit has been limited. Toosendanin (TSN) has shown therapeutic effects on NSCLC; however, the role of TSN on CDDP sensitization in NSCLC remains unknown. The antitumor effects of TSN and CDDP sensitization mediated by TSN were explored. TSN was added in various amounts to measure dose- and time-dependent cytotoxicity. Intracellular CDDP was detected by high-performance liquid chromatography...
June 2018: Journal of Natural Medicines
https://www.readbyqxmd.com/read/29618506/biochemical-and-molecular-characterisation-of-neurological-wilson-disease
#13
Go Hun Seo, Yoon-Myung Kim, Seak Hee Oh, Sun Ju Chung, In Hee Choi, Gu-Hwan Kim, Mi-Sun Yum, Jin-Ho Choi, Kyung Mo Kim, Tae-Sung Ko, Beom Hee Lee, Han-Wook Yoo
BACKGROUND: To identify biochemical and genetic features that characterise neurological Wilson disease as a distinct disease subgroup. METHODS: Detailed biochemical profiles and genotypic characteristics of neurological (86 patients) and hepatic subgroups (233 patients) from 368 unrelated Korean families were analysed. RESULTS: Compared with patients in the hepatic subgroup, patients in the neurological subgroup had a later age at onset, a higher proportion with Kayser-Fleischer rings and higher serum creatinine levels, and a lower proportion with favourable outcome (62% vs 80%, P<0...
April 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29594489/host-genetic-susceptibility-to-clostridium-difficile-infections-in-patients-undergoing-autologous-stem-cell-transplantation-a-genome-wide-association-study
#14
Senu Apewokin, Jeannette Y Lee, Julia A Goodwin, Kent D McKelvey, Owen W Stephens, Daohong Zhou, Elizabeth Ann Coleman
BACKGROUND: Clostridium difficile infection (CDI) is the most common hospital-acquired infection. Unfortunately, genes that identify CDI-susceptible patients have not been well described. We performed a genome-wide association study (GWAS) to determine genetic variants associated with the development of CDI. METHODS: A cohort study of Caucasian patients undergoing autologous stem cell transplantation for multiple myeloma was performed. Patients were genotyped using Illumina® Whole Genome Genotyping Infinium chemistry...
March 28, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/29594361/mircrorna-139-sensitizes-ovarian-cancer-cell-to-cisplatin-based-chemotherapy-through-regulation-of-atp7a-b
#15
Fang Xiao, Yueran Li, Yajun Wan, Min Xue
PURPOSE: Ovarian cancer remains a most malignant female cancer nowadays. The acquisition of chemoresistance to common-used cisplatin-based chemotherapy results in a decreased overall patient survival. The present study is aimed to investigate the role and mechanism by which miR-139/ ATPases7A/B axis modulates the chemoresistance of ovarian cancer to cisplatin-based chemotherapy. METHODS: The expression of miR-139 in cisplatin-sensitive (n = 23) and cisplatin-resistant (n = 14) ovarian cancer tissues and cell lines (CAOV-3 and SNU119) was determined using real-time PCR assays; its effect on ovarian cancer cell chemoresistance to different concentrations of cisplatin was then assessed by measuring the cell viability using MTT assays...
May 2018: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/29540233/novel-compound-heterozygote-mutations-in-the-atp7b-gene-in-an-iranian-family-with-wilson-disease-a-case-report
#16
Omid Daneshjoo, Masoud Garshasbi
BACKGROUND: Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease. CASE PRESENTATION: In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon-intron boundaries with polymerase chain reaction and sequencing...
March 15, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29473169/animal-models-of-wilson-disease
#17
REVIEW
Emily Reed, Svetlana Lutsenko, Oliver Bandmann
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism manifesting with hepatic, neurological and psychiatric symptoms. The limitations of the currently available therapy for WD (particularly in the management of neuropsychiatric disease), together with our limited understanding of key aspects of this illness (e.g. neurological vs hepatic presentation) justify the ongoing need to study WD in suitable animal models. Four animal models of WD have been established: the Long-Evans Cinnamon rat, the toxic-milk mouse, the Atp7b knockout mouse and the Labrador retriever...
February 23, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29473088/a-glimpse-into-the-regulation-of-the-wilson-disease-protein-atp7b-sheds-light-on-the-complexity-of-mammalian-apical-trafficking-pathways
#18
Arnab Gupta, Santanu Das, Kunal Ray
Wilson disease (WD), a Mendelian disorder of copper metabolism caused by mutations in the ATP7B gene, manifests a large spectrum of phenotypic variability. This phenomenon of extensive symptom variation is not frequently associated with a monogenic disorder. We hypothesize that the phenotypic variability in WD is primarily driven by the variations in interacting proteins that regulate the ATP7B function and localization in the cell. Based on existing literature, we delineated a potential molecular mechanism for ATP7B mediated copper transport in the milieu of its interactome, its dysfunction in WD and the resulting variability in the phenotypic manifestation...
March 1, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29468756/copper-deposition-in-oligodendroglial-cells-in-an-autopsied-case-of-hepatolenticular-degeneration
#19
Mayu Nishimuta, Kenta Masui, Tomoko Yamamoto, Yuichi Ikarashi, Katsutoshi Tokushige, Etsuko Hashimoto, Yoji Nagashima, Noriyuki Shibata
We present a case of hepatolenticular degeneration, so-called Wilson's disease (WD), in a 31-year-old Japanese man with broader deposition of copper in the liver, kidney and brain. The liver showed severe cirrhotic changes with macronodular pseudolobule formation, but there was little difference in immunohistochemical expression patterns of the copper transporter ATP7B between the control and present case. In the brain, there were both WD-related lesions such as the scattering of Opalski cells and changes caused by hepatic encephalopathy including the appearance of Alzheimer type II glia...
February 21, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29460662/metabolic-disposition-of-wtx101-bis-choline-tetrathiomolybdate-in-a-rat-model-of-wilson-disease
#20
Thomas Plitz, Lee Boyling
1. WTX101 (bis-choline tetrathiomolybdate) is an investigational copper (Cu)-protein-binding agent developed for the treatment of Wilson disease (WD), a rare genetic disorder caused by mutations in the ATP7B Cu-transporter and resulting in toxic Cu accumulation. 2. Mass balance of a single intravenous WTX101 dose, measured as molybdenum (Mo), was assessed over 168 h in control (Long Evans Agouti [LEA]) and Long-Evans Cinnamon (LEC) rats, a WD model. 3. In LEC rats, Mo was partially excreted (up to 45%); 29% by renal clearance, and faecal clearance, still ongoing at 168 h, accounted for 16%...
February 27, 2018: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
keyword
keyword
64083
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"