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Wilson disease

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https://www.readbyqxmd.com/read/29333545/dynamic-changes-in-copper-homeostasis-and-post-transcriptional-regulation-of-atp7a-during-myogenic-differentiation
#1
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/29332010/oligogenic-genetic-variation-of-neurodegenerative-disease-genes-in-980-postmortem-human-brains
#2
Michael J Keogh, Wei Wei, Juvid Aryaman, Ian Wilson, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, Nick Jones, James W Ironside, Patrick F Chinnery
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. METHODS: We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29331740/development-and-validation-of-a-new-population-based-simulation-model-of-osteoarthritis-in-new-zealand
#3
Ross Wilson, J Haxby Abbott
OBJECTIVE: To describe the construction and preliminary validation of a new population-based microsimulation model developed to analyse the health and economic burden and cost-effectiveness of treatments for knee osteoarthritis (OA) in New Zealand (NZ). METHOD: We developed the New Zealand Management of Osteoarthritis (NZ-MOA) model, a discrete-time state-transition microsimulation model of the natural history of radiographic knee OA. In this article, we report on the model structure, derivation of input data, validation of baseline model parameters against external data sources, and validation of model outputs by comparison of the predicted population health loss with previous estimates...
January 10, 2018: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/29331561/long-term-outcome-of-neurological-wilson-s-disease
#4
Harald Hefter, Osman Tezayak, Dietmar Rosenthal
INTRODUCTION: Aim of the study was to characterize the clinical spectrum of long-term treated patients with Wilson's disease (WD) and to identify risk factors influencing long-term outcome. METHODS: In a cross-sectional study 30 WD-patients being treated for at least 2.5 and up to 31 years underwent a detailed clinical investigation, scoring of clinical findings yielding 7 motor and 3 non-motor subscores as well as laboratory testing. A factor analysis of these subscores and laboratory parameters was performed to detect those items with the highest influence on outcome, an ANOVA and subgroup analysis tested the influence of age, age at onset of diagnosis and duration of treatment on outcome...
January 4, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29330675/recognizing-conserved-non-canonical-localization-patterns-of-toll-like-receptors-in-tissues-and-across-species
#5
REVIEW
Glenn Hamonic, J Alex Pasternak, Heather L Wilson
Toll-like receptors (TLR) 1, 2, 4, 5 and 6 were originally characterized as exclusively expressed on the cell surface and TLR 3, 7, 8 and 9 were said to be localized to the endosomes. However, continued research in this area shows that TLR localization may be altered across cell-types, and in response to stimulation, age or disease. Mucosal surfaces must remain tolerant to the commensal flora and thus intracellular or basal lateral localization of TLRs at mucosal surfaces may be necessary to prevent induction of an inflammatory response to commensal flora while still allowing the possibility for the receptors to prime an immune response when a pathogen has crossed the epithelial barrier...
January 12, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29330485/the-structure-of-metal-binding-domain-1-of-the-copper-transporter-atp7b-reveals-mechanism-of-a-singular-wilson-disease-mutation
#6
Corey H Yu, Woonghee Lee, Sergiy Nokhrin, Oleg Y Dmitriev
Copper-transporter ATP7B maintains copper homeostasis in the human cells and delivers copper to the biosynthetic pathways for incorporation into the newly synthesized copper-containing proteins. ATP7B is a target of several hundred mutations that lead to Wilson disease, a chronic copper toxicosis. ATP7B contains a chain of six cytosolic metal-binding domains (MBDs), the first four of which (MBD1-4) are believed to be regulatory, and the last two (MBD5-6) are required for enzyme activity. We report the NMR structure of MBD1, the last unsolved metal-binding domain of ATP7B...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330260/race-and-socioeconomic-status-independently-affect-risk-of-major-amputation-in-peripheral-artery-disease
#7
Shipra Arya, Zachary Binney, Anjali Khakharia, Luke P Brewster, Phil Goodney, Rachel Patzer, Jason Hockenberry, Peter W F Wilson
BACKGROUND: Black race has been shown to be a risk factor for amputation in peripheral artery disease (PAD); however, race has been argued to be a marker for socioeconomic status (SES) rather than true disparity. The aim of this study is to study the impact of race and SES on amputation risk in PAD patients. METHODS AND RESULTS: Patients with incident PAD in the national Veterans Affairs Corporate Data Warehouse were identified from 2003 to 2014 (N=155 647). The exposures were race and SES (measured by median income in residential ZIP codes)...
January 12, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29330214/statins-have-a-dose-dependent-effect-on-amputation-and-survival-in-peripheral-artery-disease-patients
#8
Shipra Arya, Anjali Khakharia, Zachary O Binney, Randall R DeMartino, Luke P Brewster, Philip P Goodney, Peter W F Wilson
Background -Statin dose guidelines for Peripheral Artery Disease (PAD) patients are largely based on coronary artery disease and stroke data. The aim of this study is to determine the effect of statin intensity on PAD outcomes of amputation and mortality. Methods -Using an observational cohort study design and a validated algorithm we identified incident PAD patients (2003-2014) in the national Veterans Affairs data. Highest statin intensity exposure [high intensity vs low- moderate intensity vs antiplatelet therapy but no statin use (AP only)] was determined within one year of diagnosis of PAD...
January 12, 2018: Circulation
https://www.readbyqxmd.com/read/29327922/a-constrained-tetrapeptide-as-a-model-of-cu-i-binding-sites-involving-cu4s6-clusters-in-proteins
#9
Edit Mesterházy, Colette Lebrun, Attila Jancsó, Pascale Delangle
Peptide design is an efficient strategy to create relevant models of natural metal binding sites found in proteins. The two short tetrapeptides Ac-Cys-dPro-Pro-Cys-NH2 (CdPPC) and Ac-Cys-Pro-Gly-Cys-NH2 (CPGC) were synthesized and studied as mimics of Cu(I) binding sites involved in Cu homeostasis. Both sequences contain β turn inducing motifs to rigidify the peptide backbone structure and thereby preorganize the metal-binding side chains. The more constrained structure of the peptide CdPPC with respect to CPGC was evidenced by the measurements of the temperature coefficients of the amide protons by 1H NMR, which suggest a solvent-shielded intramolecular hydrogen bond in CdPPC, and no H-bond in CPGC...
January 12, 2018: Inorganic Chemistry
https://www.readbyqxmd.com/read/29326279/gut-microbiota-in-cardiovascular-disease-and-heart-failure
#10
REVIEW
Takeshi Kitai, W H Wilson Tang
Accumulating evidence supports a relationship between the complexity and diversity of the gut microbiota and host diseases. In addition to alterations in the gut microbial composition, the metabolic potential of gut microbiota has been identified as a contributing factor in the development of diseases. Recent technological developments of molecular and biochemical analyses enable us to detect and characterize the gut microbiota via assessment and classification of its genomes and corresponding metabolites. These advances have provided emerging data supporting the role of gut microbiota in various physiological activities including host metabolism, neurological development, energy homeostasis, and immune regulation...
January 16, 2018: Clinical Science (1979-)
https://www.readbyqxmd.com/read/29326106/risk-of-hypoglycemia-after-hospital-discharge-after-acute-kidney-injury-in-patients-with-diabetes
#11
Adriana M Hung, Edward D Siew, Otis D Wilson, Amy M Perkins, Robert A Greevy, Jeffrey Horner, Khaled Abdel-Kader, Sharidan K Parr, Christianne L Roumie, Marie R Griffin, T Alp Ikizler, Theodore Speroff, Michael E Matheny
OBJECTIVE: Hypoglycemia is common in patients with diabetes. The risk of hypoglycemia after acute kidney injury (AKI) is not well-defined. The purpose of this study was to compare the risk for postdischarge hypoglycemia among hospitalized patients with diabetes who do and do not experience AKI. RESEARCH DESIGN AND METHODS: We performed a propensity-matched analysis of patients with diabetes, with and without AKI, using a retrospective national cohort of veterans hospitalized between 2004 and 2012...
January 11, 2018: Diabetes Care
https://www.readbyqxmd.com/read/29326084/impact-of-intracellular-ionic-strength-on-dimer-binding-in-the-nf-kb-inducing-kinase
#12
Michael R Jones, Joshua Yue, Angela K Wilson
Improper signaling of the nuclear factor-κB (NF-κB) pathway plays a critical role in many inflammatory disease states including cancer, stroke, and viral infections. Although the signaling pathways are known, how these molecular mechanisms respond to changes in the intracellular microenvironment such as pH, ionic strength, and temperature, remains elusive. Molecular dynamics simulations were employed to differentiate the structural dynamics of the NF-kB Inducing Kinase (NIK), a protein kinase responsible for invoking the non-canonical NF-κB pathway, in its native and mutant form, and in the absence and presence of salt concentration in efforts to probe whether changes in the ionic environment stabilize or destabilize the NIK dimer...
January 8, 2018: Journal of Structural Biology
https://www.readbyqxmd.com/read/29325617/wilson-disease-and-related-copper-disorders
#13
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/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#14
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29324775/the-optimal-threshold-of-serum-ceruloplasmin-in-the-diagnosis-of-wilson-s-disease-a-large-hospital-based-study
#15
Rong Xu, Yong-Fang Jiang, Yong-Hong Zhang, Xu Yang
BACKGROUND AND AIMS: A ceruloplasmin (CP) concentration <200 mg/L is conventionally considered as one of the major diagnostic criteria for Wilson's disease (WD). However, the diagnostic accuracy of this threshold has never been investigated in a sufficiently large group of patients. This study aims to present the results of serum CP measurements in various patients and to identify the optimal cutoff value of CP for the diagnosis of WD. MATERIALS AND METHODS: We identified patients whose CP levels were evaluated from January 1, 2016 to December 31, 2016 using a laboratory information database...
2018: PloS One
https://www.readbyqxmd.com/read/29324588/both-%C3%AE-1-antitrypsin-z-phenotypes-and-low-caeruloplasmin-levels-are-over-represented-in-alcohol-and-nonalcoholic-fatty-liver-disease-cirrhotic-patients-undergoing-liver-transplant-in-ireland
#16
El-Gaily A El-Rayah, Patrick J Twomey, Eleanor M Wallace, Peter A McCormick
OBJECTIVES: Alcoholic liver disease and nonalcoholic fatty liver disease (NAFLD) are steatotic liver diseases and major causes of cirrhosis. Only a minority of patients with risk factors develop cirrhosis and genetic cofactors may be important in pathogenesis. Mutations in the Wilson's and α-1-antitrypsin genes are not uncommon and we speculated that they may act as cofactors. METHODS: We investigated α-1-antitrypsin phenotyes and caeruloplasmin levels in patients undergoing elective liver transplantation...
January 10, 2018: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29323501/the-pivotal-role-of-copper-in-neurodegeneration-a-new-strategy-for-the-therapy-of-neurodegenerative-disorders
#17
Roberta Giampietro, Francesco Spinelli, Marialessandra Contino, Nicola Antonio Colabufo
Copper is an essential trace element for human body since it is a cofactor of several enzymes and proteins and plays a pivotal role in several biological functions (e.g., respiration, protection from oxidative damage, iron metabolism, etc.), also including the central nervous system development and functioning (e.g. synthesis of neurotransmitters, myelination, activation of neuropeptides, etc.). Therefore, copper dysmetabolism is associated with different toxic effects, mainly represented by oxidative stress, and it has been reported in many neurodegenerative disorders, such as Wilson's disease, Menkes disease, Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis...
January 11, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29323293/precision-editing-of-the-gut-microbiota-ameliorates-colitis
#18
Wenhan Zhu, Maria G Winter, Mariana X Byndloss, Luisella Spiga, Breck A Duerkop, Elizabeth R Hughes, Lisa Büttner, Everton de Lima Romão, Cassie L Behrendt, Christopher A Lopez, Luis Sifuentes-Dominguez, Kayci Huff-Hardy, R Paul Wilson, Caroline C Gillis, Çagla Tükel, Andrew Y Koh, Ezra Burstein, Lora V Hooper, Andreas J Bäumler, Sebastian E Winter
Inflammatory diseases of the gastrointestinal tract are frequently associated with dysbiosis, characterized by changes in gut microbial communities that include an expansion of facultative anaerobic bacteria of the Enterobacteriaceae family (phylum Proteobacteria). Here we show that a dysbiotic expansion of Enterobacteriaceae during gut inflammation could be prevented by tungstate treatment, which selectively inhibited molybdenum-cofactor-dependent microbial respiratory pathways that are operational only during episodes of inflammation...
January 11, 2018: Nature
https://www.readbyqxmd.com/read/29322087/the-endosomal-protein-endotubin-is-required-for-enterocyte%C3%A2-differentiation
#19
Christopher M Cox, Ruifeng Lu, Kaan Salcin, Jean M Wilson
Background & Aims: During late embryonic development and through weaning, enterocytes of the ileum are highly endocytic. Defects in endocytosis and trafficking are implicated in neonatal disease, however, the mechanisms regulating trafficking during the developmental period are incompletely understood. The apical endosomal protein endotubin (EDTB) is highly expressed in the late embryonic and neonatal ileum. In epithelial cells in vitro, EDTB regulates both trafficking of tight junction proteins and proliferation through modulation of YAP activity...
2018: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29321950/manifestations-of-renal-impairment-in-fructose-induced-metabolic-syndrome
#20
Kameliya Bratoeva, George S Stoyanov, Albena Merdzhanova, Mariya Radanova
Introduction International studies show an increased incidence of chronic kidney disease (CKD) in patients with metabolic syndrome (MS). It is assumed that the major components of MS - obesity, insulin resistance, dyslipidemia, and hypertension - are linked to renal damage through the systemic release of several pro-inflammatory mediators, such as uric acid (UA), C-reactive protein (CRP), and generalized oxidative stress. The aim of the present study was to investigate the extent of kidney impairment and manifestations of dysfunction in rats with fructose-induced MS...
November 7, 2017: Curēus
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