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https://www.readbyqxmd.com/read/28436605/digeorge-like-syndrome-in-a-child-with-a-3p12-3-deletion-involving-mir4273-gene-born-to-a-mother-with-gestational-diabetes-mellitus
#1
Emilia Cirillo, Giuliana Giardino, Vera Gallo, Giovanni Galasso, Roberta Romano, Roberta D'Assante, Giulia Scalia, Luigi Del Vecchio, Lucio Nitsch, Rita Genesio, Claudio Pignata
Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. Recently, it has been reported that at least part of the TBX1 mutant phenotype is due to excessive bone morphogenetic proteins (BMP) signaling. Evidence suggests that miRNA may modulate the expression of critical T-box transcriptional regulators during midface development and Bmp-signaling...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436004/engineering-of-an-h2-o2-auto-scavenging-in-vivo-cascade-for-pinoresinol-production
#2
Yongkun Lv, Xiaozhong Cheng, Guocheng Du, Jingwen Zhou, Jian Chen
Pinoresinol is a natural lignan with a high market value that has potential pharmacological and food supplement applications. Pinoresinol is currently isolated from plants, which suffers from low efficiency and yield. To produce pinoresinol from inexpensive and industrially available eugenol, an in vivo enzymatic cascade composed of vanillyl alcohol oxidase and peroxidase was designed, which scavenges H2 O2 automatically and eliminates protein purification and cofactor addition. Two peroxidases were screened and identified from Escherichia coli BL21 (DE3), and tested in the enzymatic cascade...
April 24, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/28435430/influence-of-daily-oral-prophylactic-selenium-treatment-on-the-dibutyltin-dichloride-dbtc-induced-pancreatitis-in-rats
#3
J Merkord, N Görl, M Lemke, A Berg, H Weber, R Ramer, G Hennighausen
Dibutyltin dichloride (DBTC) is an organotin compound used as model for acute and chronic pancreatitis. Oxidative stress is one of the mechanisms of propagation of acinar cell injury in acute pancreatitis. Selenium is an essential cofactor in the antioxidant glutathione peroxidase pathway. Selenium levels are described to be subnormal in patients with acute and chronic pancreatitis. The aim of our studies was to determine the prophylactic effect of Na-selenite [5 mg kg(-1) body weight (b.w.) per os (p.o.) 7 days] on the pathogenesis and course of DBTC- induced pancreatitis...
2017: EXCLI journal
https://www.readbyqxmd.com/read/28433662/iron-and-thiol-redox-signaling-in-cancer-an-exquisite-balance-to-escape-ferroptosis
#4
REVIEW
Shinya Toyokuni, Fumiya Ito, Kyoko Yamashita, Yasumasa Okazaki, Shinya Akatsuka
Epidemiological data indicate a constant worldwide increase in cancer mortality, although the age of onset is increasing. Recent accumulation of genomic data on human cancer via next-generation sequencing confirmed that cancer is a disease of genome alteration. In many cancers, the Nrf2 transcription system is activated via mutations either in Nrf2 or Keap1 ubiquitin ligase, leading to persistent activation of the genes with antioxidative functions. Furthermore, deep sequencing of passenger mutations is clarifying responsible cancer causative agent(s) in each case, including aging, APOBEC activation, smoking and UV...
April 19, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28433551/in-vitro-investigation-of-metabolic-profiling-of-newly-developed-topoisomerase-inhibitors-ethyl-fluorescein-hydrazones-etflhs-in-rlms-by-lc-ms-ms
#5
Adnan A Kadi, Nasser S Al-Shakliah, Wencui Yin, A F M Motiur Rahman
Metabolic profiling of newly reported five topoisomerase inhibitors namely ethyl fluorescein hydrazones (EtFLHs) were studied in rat liver microsomes (RLMs) and the data were acquired in a liquid chromatography (LC) ion trap mass spectrometry. Hydroxyl group containing EtFLHs derivatives (1-3) were bio-transformed into hydrolyzed, mono-hydroxylated and hydrolyzed together with mono-hydroxylated metabolites. On the other hand, nitro and methoxy groups containing EtFLHs derivatives (4-5) were bio-transformed into hydrolyzed, hydrolyzed together with mono-hydroxylated and azo-reductive metabolites in the presence of NADPH...
April 6, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28431213/genome-mining-unearths-a-hybrid-nonribosomal-peptide-synthetase-like-pteridine-synthase-biosynthetic-gene-cluster
#6
Hyun Bong Park, Corey E Perez, Karl W Barber, Jesse Rinehart, Jason M Crawford
Nonribosomal peptides represent a large class of metabolites with pharmaceutical relevance. Pteridines, such as pterins, folates, and flavins, are heterocyclic metabolites that often serve as redox-active cofactors. The biosynthetic machineries for construction of these distinct classes of small molecules operate independently in the cell. Here, we discovered an unprecedented nonribosomal peptide synthetase-like-pteridine synthase hybrid biosynthetic gene cluster in Photorhabdus luminescens using genome synteny analysis...
March 15, 2017: ELife
https://www.readbyqxmd.com/read/28430534/chronobiological-factors-for-compassion-satisfaction-and-fatigue-among-ambulatory-oncology-caregivers
#7
Daniela Bellicoso, Maureen Trudeau, Margaret I Fitch, Martin R Ralph
Primary caregivers for victims of chronic illness and or trauma experience both positive and negative emotional consequences. These are broadly classified as compassion satisfaction (CS) and compassion fatigue (CF). Because one of the components of CF, burnout, varies with chronotype and sleep quality, we assessed the influence of chronobiological features on the broader constructs of CS and CF. Responses from primary ambulatory care oncology staff working dayshifts were assessed for potential relationships of chronotype and sleep quality with CS and CF using the professional quality of life scale...
April 21, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28429315/the-mitochondrion-of-euglena-gracilis
#8
Verena Zimorski, Cessa Rauch, Jaap J van Hellemond, Aloysius G M Tielens, William F Martin
In the presence of oxygen, Euglena gracilis mitochondria function much like mammalian mitochondria. Under anaerobiosis, E. gracilis mitochondria perform a malonyl-CoA independent synthesis of fatty acids leading to accumulation of wax esters, which serve as the sink for electrons stemming from glycolytic ATP synthesis and pyruvate oxidation. Some components (enzymes and cofactors) of Euglena's anaerobic energy metabolism are found among the anaerobic mitochondria of invertebrates, others are found among hydrogenosomes, the H2-producing anaerobic mitochondria of protists...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28427921/enhancement-of-ethyl-s-4-chloro-3-hydroxybutanoate-production-at-high-substrate-concentration-by-in-situ-resin-adsorption
#9
Li-Feng Chen, Hai-Yang Fan, Yi-Ping Zhang, Wei Wei, Jin-Ping Lin, Dong-Zhi Wei, Hua-Lei Wang
Asymmetric reduction of ethyl 4-chloro-3-oxobutyrate (COBE) by carbonyl reductases presents an efficient way to produce Ethyl (S)-4-chloro-3-hydroxybutanoate ((S)-CHBE), an important chiral intermediate for the synthesis of hydroxymethylglutaryl-CoA reductase inhibitors such as Lipitor(®). In this study, an NADPH-dependent carbonyl reductase (SrCR) from Synechocystis sp. was characterized to demonstrate a broad substrate spectrum, and the highest activity (53.1U/mg protein) with COBE. To regenerate the cofactor NADPH, Bacillus subtilis glucose dehydrogenase was successfully coexpressed with SrCR...
April 17, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28426877/knockdown-of-hnrnpk-leads-to-increased-dna-damage-after-irradiation-and-reduces-survival-of-tumor-cells
#10
Nadine Wiesmann, Judith Strozynski, Carina Beck, Nadine Zimmermann, Simone Mendler, Rita Gieringer, Irene Schmidtmann, Jürgen Brieger
Radiotherapy is an important treatment option in the therapy of multiple tumor entities among them head and neck squamous cell carcinoma (HNSCC). However, the success of radiotherapy is limited by the development of radiation resistances. Heterogeneous nuclear ribonucleoprotein K (hnRNPK) is a cofactor of p53 and represents a potential target for radio sensitization of tumor cells. In this study, we analyzed the impact of hnRNPK on the DNA damage response after gamma irradiation. By yH2AX foci analysis, we found that hnRNPK knockdown increases DNA damage levels in irradiated cells...
March 1, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28426233/investigation-of-classical-organic-and-ionic-liquid-cosolvents-for-early-stage-screening-in-fragment-based-inhibitor-design-with-unrelated-bacterial-and-human-dihydrofolate-reductases
#11
Jacynthe L Toulouse, Sarah M J Abraham, Natalia Kadnikova, Dominic Bastien, Vincent Gauchot, Andreea R Schmitzer, Joelle N Pelletier
Drug design by methods such as fragment screening requires effective solubilization of millimolar concentrations of small organic compounds while maintaining the properties of the biological target. We investigate four organic solvents and three 1-butyl-3-methylimidazolium (BMIm)-based ionic liquids (ILs) as cosolvents to establish conditions for screening two structurally unrelated dihydrofolate reductases (DHFRs) that are prime drug targets. Moderate concentrations (10%-15%) of cosolvents had little effect on inhibition of the microbial type II R67 DHFR and of human DHFR (hDHFR), while higher concentrations of organic cosolvents generally decreased activity of both DHFRs...
April 20, 2017: Assay and Drug Development Technologies
https://www.readbyqxmd.com/read/28425549/nicotinamide-adenine-dinucleotide-detection-based-on-silver-nanoclusters-stabilized-by-a-dumbbell-shaped-probe
#12
Hong-Ya Wang, Jin-Liang Ma, Bin-Cheng Yin, Bang-Ce Ye
We have developed a novel method for detecting nicotinamide adenine dinucleotide (NAD(+)) based on fluorescent silver nanoclusters (AgNCs) stabilized by a dumbbell-shaped DNA template containing two cytosine-loops joined in a dsDNA stem. The design involves two types of components: a dumbbell-shaped DNA template and three enzymes. In the presence of NAD(+) as a cofactor, Escherichia coli DNA ligase (E.coli DNA ligase) catalyzes template ligation to generate a sealed (no terminal nucleotides) dumbbell-shaped structure, preventing digestion by exonuclease III (Exo III) and exonuclease I (Exo I)...
April 20, 2017: Analyst
https://www.readbyqxmd.com/read/28425502/revealing-hidden-conformational-space-of-lov-protein-vivid-through-rigid-residue-scan-simulations
#13
Hongyu Zhou, Brian D Zoltowski, Peng Tao
VIVID(VVD) protein is a Light-Oxygen-Voltage(LOV) domain in circadian clock system. Upon blue light activation, a covalent bond is formed between VVD residue Cys108 and its cofactor flavin adenine dinucleotide(FAD), and prompts VVD switching from Dark state to Light state with significant conformational deviation. However, the mechanism of this local environment initiated global protein conformational change remains elusive. We employed a recently developed computational approach, rigid residue scan(RRS), to systematically probe the impact of the internal degrees of freedom in each amino acid residue of VVD on its overall dynamics by applying rigid body constraint on each residue in molecular dynamics simulations...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28425208/nitrogenase-cofactor-inspiration-for-model-chemistry
#14
Ivana Djurdjevic, Oliver Einsle, Laure Decamps
The cofactor of nitrogenase is the largest and most intricate metal cluster known in nature. Its reactivity, mode of action and even the precise binding site of substrate remain a matter of debate. For decades, synthetic chemists have taken inspiration from the exceptional structural, electronic and catalytic features of the cofactor and have tried to either mimic the unique topology of the entire site, or to extract its functional principles and build them into novel catalysts that achieve the same - or very similar - astounding transformations...
April 20, 2017: Chemistry, An Asian Journal
https://www.readbyqxmd.com/read/28423958/strategies-and-perspectives-of-assembling-multi-enzyme-systems
#15
Shi-Zhen Wang, Yong-Hui Zhang, Hong Ren, Ya-Li Wang, Wei Jiang, Bai-Shan Fang
Multi-enzyme complexes have the potential to achieve high catalytic efficiency for sequence reactions due to their advantages in eliminating product inhibition, facilitating intermediate transfer and in situ regenerating cofactors. Constructing functional multi-enzyme systems to mimic natural multi-enzyme complexes is of great interest for multi-enzymatic biosynthesis and cell-free synthetic biotransformation, but with many challenges. Currently, various assembly strategies have been developed based on the interaction of biomacromolecules such as DNA, peptide and scaffolding protein...
April 20, 2017: Critical Reviews in Biotechnology
https://www.readbyqxmd.com/read/28423051/biochemical-and-molecular-characterization-of-the-isocitrate-dehydrogenase-with-dual-coenzyme-specificity-from-the-obligate-methylotroph-methylobacillus-flagellatus
#16
Anastasia Y Romkina, Michael Y Kiriukhin
The isocitrate dehydrogenase (MfIDH) with unique double coenzyme specificity from Methylobacillus flagellatus was purified and characterized, and its gene was cloned and overexpressed in E. coli as a fused protein. This enzyme is homodimeric,-with a subunit molecular mass of 45 kDa and a specific activity of 182 U mg -1 with NAD+ and 63 U mg -1 with NADP+. The MfIDH activity was dependent on divalent cations and Mn2+ enhanced the activity the most effectively. MfIDH exhibited a cofactor-dependent pH-activity profile...
2017: PloS One
https://www.readbyqxmd.com/read/28421082/insights-into-the-structure-function-and-ion-mediated-signaling-pathways-transduced-by-plant-integrin-linked-kinases
#17
Sorina C Popescu, Elizabeth K Brauer, Gizem Dimlioglu, George V Popescu
Kinases facilitate detection of extracellular signals and set in motion cellular responses for plant adaptation and survival. Some of the energy utilized for kinase signal processing is produced through the activity of ion transporters. Additionally, the synergy between cellular ions and signal transduction influences plant response to pathogens, and their growth and development. In plants, the signaling elements that connect cell wall and membrane sensors with ion homeostasis and transport-mediated processes are largely unknown...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28421043/outlining-core-pathways-of-amyloid-toxicity-in-bacteria-with-the-repa-wh1-prionoid
#18
Laura Molina-García, María Moreno-Del Álamo, Pedro Botias, Zaira Martín-Moldes, María Fernández, Alicia Sánchez-Gorostiaga, Aída Alonso-Del Valle, Juan Nogales, Jesús García-Cantalejo, Rafael Giraldo
The synthetic bacterial prionoid RepA-WH1 causes a vertically transmissible amyloid proteinopathy in Escherichia coli that inhibits growth and eventually kills the cells. Recent in vitro studies show that RepA-WH1 builds pores through model lipid membranes, suggesting a possible mechanism for bacterial cell death. By comparing acutely (A31V) and mildly (ΔN37) cytotoxic mutant variants of the protein, we report here that RepA-WH1(A31V) expression decreases the intracellular osmotic pressure and compromise bacterial viability under either aerobic or anaerobic conditions...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28420729/factor-v-anticoagulant-cofactor-activity-that-targets-the-early-phase-of-coagulation
#19
Salvatore Santamaria, Natalia Reglińska-Matveyev, Magdalena Gierula, Rodney M Camire, James T B Crawley, David A Lane, Josefin Ahnström
Tissue factor pathway inhibitor (TFPI), the main inhibitor of initiation of coagulation, exerts an important anticoagulant role through the factor Xa (FXa)-dependent inhibition of tissue factor/factor VIIa (FVIIa). Protein S is a TFPI cofactor, enhancing the efficiency of FXa inhibition. TFPI can also inhibit prothrombinase assembly by directly interacting with coagulation factor V (FV) which has been activated by FXa. Since full-length TFPI associates with FV in plasma, we hypothesized that FV may influence TFPI inhibitory function...
April 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28420530/rapid-determination-of-the-various-native-forms-of-vitamin-b6-and-b2-in-cow-s-milk-using-ultra-high-performance-liquid-chromatography
#20
A Schmidt, M G Schreiner, H K Mayer
As the formation of pyridoxal phosphate, the active cofactor of vitamin B6, is dependent on riboflavin 5-phosphate, we propose a fast and simple ultra-high performance liquid chromatography method for the simultaneous determination of the native B6 vitamers pyridoxal, pyridoxine, pyridoxamine, their mono phosphorus esters and 4-pyridoxic acid as well as vitamin B2 as riboflavin and its phosphorus ester riboflavin 5-phosphate in milk. Separation was achieved under 6.0min by reversed-phase and pH gradient elution...
April 9, 2017: Journal of Chromatography. A
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