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https://www.readbyqxmd.com/read/28902413/frequent-genes-in-rare-diseases-panel-based-next-generation-sequencing-to-disclose-causal-mutations-in-hereditary-neuropathies
#1
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B Schulz, Kristl G Claeys, Burkhard Gess, Istvan Katona, Andreas Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Ludger Schöls, Holger Lerche, G Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter-Weigel, Saskia Biskup
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing (NGS) technique. In 121 cases (19.8%), we identified at least one putative pathogenic mutation. Out of these, 54.4% showed an autosomal dominant, 33...
September 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28893373/peroxiredoxin-i-participates-in-the-protection-of-reactive-oxygen-species-mediated-cellular-senescence
#2
Young-Ho Park, Hyun-Sun Kim, Jong-Hee Lee, Seon-A Choi, Jin-Man Kim, Goo Taeg Oh, Sang Won Kang, Sun-Uk Kim, Dae-Yeul Yu
Peroxiredoxin I (Prx I) plays an important role as a reactive oxygen species (ROS) scavenger in protecting and maintaining cellular homeostasis; however, the underlying mechanisms are not well understood. Here, we identified a critical role of Prx I in protecting cells against ROS-mediated cellular senescence by suppression of p16INK4a expression. Compared to wild-type mouse embryonic fibroblasts (WT-MEFs), Prx I-/- MEFs exhibited senescence-associated phenotypes. Moreover, the aged Prx I-/- mice showed an increased number of cells with senescence associated-β-galactosidase (SA-β-gal) activity in a variety of tissues...
September 12, 2017: BMB Reports
https://www.readbyqxmd.com/read/28871418/time-spent-with-impaired-autoregulation-is-linked-with-outcome-in-severe-infant-paediatric-traumatic-brain-injury
#3
Konstantin Hockel, Jennifer Diedler, Felix Neunhoeffer, Ellen Heimberg, Carmen Nagel, Martin U Schuhmann
BACKGROUND: It could be shown in traumatic brain injury (TBI) in adults that the functional status of cerebrovascular autoregulation (AR), determined by the pressure reactivity index (PRx), correlates to and even predicts outcome. We investigated PRx, cerebral perfusion pressure (CPP) and intracranial pressure (ICP) and their correlation to outcome in severe infant and paediatric TBI. METHODS: Seventeen patients (range, 1 day to 14 years) with severe TBI (median GCS at presentation, 4) underwent long-term computerised ICP and mean arterial pressure (MAP) monitoring using dedicated software to determine CPP and PRx and optimal CPP (CPP level where PRx shows best autoregulation) continuously...
September 4, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28866748/early-response-of-glutathione-and-thioredoxin-dependent-antioxidant-defense-systems-to-tl-i-and-tl-iii-mediated-oxidative-stress-in-adherent-pheochromocytoma-pc12adh-cells
#4
Lis C Puga Molina, Damiana M Salvatierra Fréchou, Sandra V Verstraeten
Thallium (Tl) is a toxic heavy metal that causes oxidative stress both in vitro and in vivo. In this work, we evaluated the production of oxygen (ROS)- and nitrogen (RNS)-reactive species in adherent PC12 (PC12adh) cells exposed for 0.5-6 h to Tl(I) or Tl(III) (10-100 µM). In this system, Tl(I) induced mostly H2O2 generation while Tl(III) induced H2O2 and ONOO(·-) generation. Both cations enhanced iNOS expression and activity, and decreased CuZnSOD expression but without affecting its activity. Tl(I) increased MnSOD expression and activity but Tl(III) decreased them...
September 2, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28821623/proteolytic-cleavage-by-the-imp-complex-or-oct1-peptidase-controls-the-localization-of-the-yeast-peroxiredoxin-prx1-to-distinct-mitochondrial-compartments
#5
Fernando Gomes, Flavio Romero Palma, Mario H Barros, Eduardo T Tsuchida, Helena G Turano, Thiago G P Alegria, Marilene Demasi, Luis E S Netto
Yeast Prx1 is a mitochondrial 1-Cys peroxiredoxin that catalyzes the reduction of endogenously generated H2O2 Prx1 is synthesized on cytosolic ribosomes as a preprotein with a cleavable N-terminal presequence that is the mitochondrial targeting signal, but the mechanisms underlying Prx1 distribution to distinct mitochondrial subcompartments are unknown. Here, we provide direct evidence of the following dual mitochondrial localization of Prx1: a soluble form in the intermembrane space and a form in the matrix weakly associated with the inner mitochondrial membrane...
August 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28819737/further-controversies-about-brain-tissue-oxygenation-pressure-reactivity-after-traumatic-brain-injury
#6
Morten Andresen, Joseph Donnelly, Marcel Aries, Marianne Juhler, David Menon, Pja Hutchinson, Peter Smielewski
BACKGROUND: Continuous monitoring of cerebral autoregulation is considered clinically useful due to its ability to warn against brain ischemic insults, which may translate to a relationship with adverse outcome. It is typically performed using the pressure reactivity index (PRx) based on mean arterial pressure and intracranial pressure. A new ORx index based on brain tissue oxygenation and cerebral perfusion pressure (CPP) has been proposed that similarly allows for evaluation of cerebrovascular reactivity...
August 17, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28776692/brassinosteroid-mediated-apoplastic-h2-o2-glutaredoxin-12-14-cascade-regulates-antioxidant-capacity-in-response-to-chilling-in-tomato
#7
Xiao-Jian Xia, Ping-Ping Fang, Xie Guo, Xiang-Jie Qian, Jie Zhou, Kai Shi, Yan-Hong Zhou, Jing-Quan Yu
Brassinosteroids (BRs) regulate plant development and stress response. Although much has been learned about their roles in plant development, the mechanisms by which BRs regulate plant stress tolerance remain unclear. Chilling is a major stress that adversely affects plant growth. Here, we report that BR positively regulates chilling tolerance in tomato. BR partial deficiency aggravated chilling-induced oxidized protein accumulation, membrane lipid peroxidation and decrease of maximum quantum efficiency of photosystem II (Fv/Fm)...
August 4, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/28762774/hyperoxidation-of-peroxiredoxins-gain-or-loss-of-function
#8
Elizabeth A Veal, Zoe Elizabeth Underwood, Lewis Elwood Tomalin, Brian Morgan, Che Sobashkar Pillay
SIGNIFICANCE: In 2003, structural studies revealed that eukaryotic 2 Cys peroxiredoxins (Prx) have evolved to be sensitive to inactivation of their thioredoxin peroxidase activity by hyperoxidation (sulfinylation) of their peroxide-reacting catalytic cysteine. This was accompanied by the unexpected discovery, that the sulfinylation of this cysteine was reversible in vivo and the identification of a new enzyme, sulfiredoxin, that had apparently co-evolved specifically to reduce hyperoxidized 2-Cys Prx, restoring their peroxidase activity...
August 1, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28743622/identification-and-characterization-of-atypical-2-cysteine-peroxiredoxins-from-mud-crab-scylla-paramamosain-the-first-evidence-of-two-peroxiredoxin-5-genes-in-non-primate-species-and-their-involvement-in-immune-defense-against-pathogen-infection
#9
Dan-Dan Tu, Mei Jiang, Wen-Bin Gu, Yi-Lian Zhou, Qi-Hui Zhu, Zhong-Kai Zhou, Yu-Yin Chen, Miao-An Shu
Peroxiredoxin 5 (Prx5) belongs to a novel family of evolutionarily conserved antioxidant proteins that protect cells against various oxidative stresses. Generally, no more than one Prx5 transcript had been reported in non-primate species. In this study, two Prx5 genes (coined as SpPrx5-1 and SpPrx5-2) were firstly isolated from the mud crab, Scylla paramamosain, through RT-PCR and RACE methods. The open reading frame of SpPrx5-1 and SpPrx5-2 were 561 bp and 429 bp in length, encoding 186 and 142 amino acids polypeptide, respectively...
July 22, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28742817/temporal-profile-of-intracranial-pressure-and-cerebrovascular-reactivity-in-severe-traumatic-brain-injury-and-association-with-fatal-outcome-an-observational-study
#10
Hadie Adams, Joseph Donnelly, Marek Czosnyka, Angelos G Kolias, Adel Helmy, David K Menon, Peter Smielewski, Peter J Hutchinson
BACKGROUND: Both intracranial pressure (ICP) and the cerebrovascular pressure reactivity represent the dysregulation of pathways directly involved in traumatic brain injury (TBI) pathogenesis and have been used to inform clinical management. However, how these parameters evolve over time following injury and whether this evolution has any prognostic importance have not been studied. METHODS AND FINDINGS: We analysed the temporal profile of ICP and pressure reactivity index (PRx), examined their relation to TBI-specific mortality, and determined if the prognostic relevance of these parameters was affected by their temporal profile using mixed models for repeated measures of ICP and PRx for the first 240 hours from the time of injury...
July 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28742798/cerebrovascular-pressure-reactivity-monitoring-using-wavelet-analysis-in-traumatic-brain-injury-patients-a-retrospective-study
#11
COMPARATIVE STUDY
Xiuyun Liu, Joseph Donnelly, Marek Czosnyka, Marcel J H Aries, Ken Brady, Danilo Cardim, Chiara Robba, Manuel Cabeleira, Dong-Joo Kim, Christina Haubrich, Peter J Hutchinson, Peter Smielewski
BACKGROUND: After traumatic brain injury (TBI), the ability of cerebral vessels to appropriately react to changes in arterial blood pressure (pressure reactivity) is impaired, leaving patients vulnerable to cerebral hypo- or hyperperfusion. Although, the traditional pressure reactivity index (PRx) has demonstrated that impaired pressure reactivity is associated with poor patient outcome, PRx is sometimes erratic and may not be reliable in various clinical circumstances. Here, we introduce a more robust transform-based wavelet pressure reactivity index (wPRx) and compare its performance with the widely used traditional PRx across 3 areas: its stability and reliability in time, its ability to give an optimal cerebral perfusion pressure (CPPopt) recommendation, and its relationship with patient outcome...
July 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28721421/a-pr-3-doping-strategy-for-simultaneously-optimizing-the-size-and-near-infrared-persistent-luminescence-of-zggo-cr-3-nanoparticles-for-potential-bio-imaging
#12
Zheng Gong, Yuxue Liu, Jian Yang, Duanting Yan, Hancheng Zhu, Chunguang Liu, Changshan Xu, Hong Zhang
Spinel-phase Zn2Ga2.98-xGe0.75O8:Cr0.020,Prx (ZGGO:Cr(3+),Pr(3+)) near infrared (NIR) persistent luminescence nanoparticles (PLNPs) with different amounts of Pr(3+) dopant were prepared by a hydrothermal method in combination with a subsequent annealing in a vacuum. For these nanoparticles, the averaged particle size decreases from 64 to 37 nm with increasing Pr(3+) doping concentration from 0 to 0.025 and Cr(3+) and Pr(3+) ions are uniformly doped into the interior and surface of a single nanoparticle. It can be found that Pr(3+) doping leads to the appearance of more anti-site pairs () around distorted octahedral Cr(3+) ions and enhanced NIR emissions around 697 nm, which originate from the (2)E((2)G) → (4)A2((4)F) and (4)T2((4)F) → (4)A2((4)F) transitions of the interior and surface Cr(3+) ions in the nanoparticles...
September 20, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28716521/update-on-quality-of-care-in-hispanics-and-other-racial-ethnic-groups-in-the-united-states-discharged-with-the-diagnosis-of-acute-myocardial-infarction-in-2013
#13
Tomás Romero, Kristina L Greenwood, Dale Glaser
BACKGROUND: Disparities in Acute Myocardial Infarction (AMI) care and outcomes have been frequently reported in racial-ethnic minorities in the U.S. Some studies have attributed disparities in Hispanics and other minorities to lower quality of services at hospitals where they seek care. Current information from hospitals with large Hispanic representations and updated quality resources is needed. METHODS: Retrospective observational study of 839 AMI patients discharged in 2013 from three Southern California Hospitals (A, B, C) with tertiary cardiac care level...
July 8, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28699412/pressure-autoregulation-measurement-techniques-in-adult-tbi-part-ii-a-scoping-review-of-continuous-methods
#14
Frederick Adam Zeiler, Joseph Donnelly, Leanne Calviello, Peter Smieleweski, David Menon, Marek Czosnyka
To perform systematically a scoping review of the literature on commonly described continuous autoregulation measurement techniques in adult TBI. The goal was to provide an overview of methodology and comprehensive reference library of the available literature for each technique. Five separate small systematic reviews were conducted for each of the continuous techniques: pressure reactivity index (PRx), laser Doppler flowmetry (LDF), near infrared spectroscopy (NIRS) techniques, brain tissue oxygen tension (PbtO2), and thermal diffusion (TD) techniques...
July 12, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28689775/gene-characteristics-immune-and-stress-responses-of-pmprx1-in-black-tiger-shrimp-penaeus-monodon-insights-from-exposure-to-pathogenic-bacteria-and-toxic-environmental-stressors
#15
Ruiqian Bu, Pengfei Wang, Chao Zhao, Weiyang Bao, Lihua Qiu
Peroxiredoxins (Prxs) are ubiquitous, multifunctional and evolutionarily conserved enzymes that can protect cells from oxidative damage caused by ROS and play a vital role in immune responses. Here, a full-length Prx1 cDNA sequence (PmPrx1) was isolated from Penaeus monodon. The PmPrx1 cDNA was 951 base pairs (bp), encoding 198 amino acid polypeptides. The results of qRT-PCR showed that the PmPrx1 mRNA was ubiquitously expressed in all tissues tested and had a comparatively high expression level in immune-associated tissues (gill, hepatopancreas)...
July 6, 2017: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/28683851/survival-of-apc-mutant-colorectal-cancer-cells-requires-interaction-between-tankyrase-and-a-thiol-peroxidase-peroxiredoxin-ii
#16
Dong Hoon Kang, Joanna H S Lee, Sang Won Kang
Overexpression of mammalian 2-Cys peroxiredoxin (Prx) enzymes is observed in most cancer tissues. Nevertheless, their specific roles in colorectal cancer (CRC) progression has yet to be fully elucidated. Here, a novel molecular mechanism by which PrxII/Tankyrase (TNKS) interaction mediates survival of adenomatous polyposis coli (APC)-mutant CRC cells was explored. In mice with an inactivating APC mutation, a model of spontaneous intestinal tumorigenesis, deletion of PrxII reduced intestinal adenomatous polyposis and thereby increased survival...
August 2017: BMB Reports
https://www.readbyqxmd.com/read/28678763/neuroprotective-effect-of-a-novel-gastrodin-derivative-against-ischemic-brain-injury-involvement-of-peroxiredoxin-and-tlr4-signaling-inhibition
#17
Xiao-Na Mao, Hong-Jing Zhou, Xiao-Jia Yang, Li-Xue Zhao, Xi Kuang, Chu Chen, Dong-Ling Liu, Jun-Rong Du
The inhibition of extracellular inflammatory peroxiredoxin (Prx) signaling appears to be a potential therapeutic strategy for neuroinflammatory injury after acute ischemic stroke. Gastrodin (Gas) is a phenolic glycoside that is used for the treatment of cerebral ischemia, accompanied by regulation of the autoimmune inflammatory response. The present study investigated the neuroprotective effects of Gas and its derivative, Gas-D, with a focus on the potential mechanism associated with inflammatory Prx-Toll-like receptor 4 (TLR4) signaling...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28659575/interaction-of-tankyrase-and-peroxiredoxin-ii-is-indispensable-for-the-survival-of-colorectal-cancer-cells
#18
Dong Hoon Kang, Doo Jae Lee, Sunmi Lee, So-Young Lee, Yukyung Jun, Yerin Kim, Youngeun Kim, Ju-Seog Lee, Dae-Kee Lee, Sanghyuk Lee, Eek-Hoon Jho, Dae-Yeul Yu, Sang Won Kang
Mammalian 2-Cys peroxiredoxin (Prx) enzymes are overexpressed in most cancer tissues, but their specific signaling role in cancer progression is poorly understood. Here we demonstrate that Prx type II (PrxII) plays a tumor-promoting role in colorectal cancer by interacting with a poly(ADP-ribose) polymerase (PARP) tankyrase. PrxII deletion in mice with inactivating mutation of adenomatous polyposis coli (APC) gene reduces intestinal adenomatous polyposis via Axin/β-catenin axis and thereby promotes survival...
June 28, 2017: Nature Communications
https://www.readbyqxmd.com/read/28647924/comparative-expression-analysis-of-rice-and-arabidopsis-peroxiredoxin-genes-suggests-conserved-or-diversified-roles-between-the-two-species-and-leads-to-the-identification-of-tandemly-duplicated-rice-peroxiredoxin-genes-differentially-expressed-in-seeds
#19
Yun-Shil Gho, Sun-A Park, Sung-Ruyl Kim, Anil Kumar Nalini Chandran, Gynheung An, Ki-Hong Jung
BACKGROUND: Peroxiredoxins (PRXs) have recently been identified as plant antioxidants. Completion of various genome sequencing projects has provided genome-wide information about PRX genes in major plant species. Two of these -- Oryza sativa (rice) and Arabidopsis -- each have 10 PRX members. Although significant progress has been made in understanding their biological roles in Arabidopsis, those functions in rice, a model crop plant, have not been well studied. RESULTS: We performed a comparative expression analysis of rice and Arabidopsis PRXs...
December 2017: Rice
https://www.readbyqxmd.com/read/28643998/survey-in-expert-clinicians-on-validity-of-automated-calculation-of-optimal-cerebral-perfusion-pressure
#20
Romy Steijn, Roy Stewart, Marek Czosnyka, Joseph Donnelly, Ari Ercole, Antony Absalom, Jan W Elting, Christina Haubrich, Peter Smielewski, Marcel Aries
BACKGROUND: Optimal cerebral perfusion pressure (CPPopt) targeting in traumatic brain injury (TBI) patients constitutes an active and controversial area of research. It has been suggested that an autoregulation guided CPP therapy may improve TBI outcome. Prerequisites of a CPPopt intervention study would be objective criteria for the CPPopt detection.. This study compared the agreement between automated and visual CPPopt detection. METHODS: Twenty-five clinicians from 18 centres worldwide, familiar with brain monitoring and using dedicated software, reviewed ten 4-hour CPPopt screenshots at 48 hrs after ictus in selected TBI patients...
June 22, 2017: Minerva Anestesiologica
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