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https://www.readbyqxmd.com/read/29223885/three-novel-slc2a1-mutations-in-bulgarian-patients-with-different-forms-of-genetic-generalized-epilepsy-reflecting-the-clinical-and-genetic-diversity-of-glut1-deficiency-sydnrome
#1
Nevyana Ivanova, Valentina Peycheva, Kunka Kamenarova, Dalia Kancheva, Irina Tsekova, Iliana Aleksandrova, Dimitrina Hristova, Ivan Litvinenko, Diana Todorova, Gergana Sarailieva, Petya Dimova, Veselin Tomov, Veneta Bozhinova, Vanio Mitev, Radka Kaneva, Albena Jordanova
PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into the molecular pathology of GLUT1-DS that would strengthen the genotype-phenotype correlations and improve the diagnostic procedure...
November 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29223873/molecular-characterization-and-expression-profiles-of-lpxrfa-at-the-brain-pituitary-gonad-axis-of-half-smooth-tongue-sole-cynoglossus-semilaevis-during-ovarian-maturation
#2
Bin Wang, Quan Liu, Xuezhou Liu, Yongjiang Xu, Bao Shi
Gonadotropin-inhibitory hormone (GnIH) has been characterized by its ability to inhibit either basal or gonadotropin-releasing hormone (GnRH)-induced gonadotropin synthesis and release in birds and mammals. However, the physiological role of GnIH on the reproductive axis in fish remains inconclusive, with most studies focusing on the orders Cypriniformes and Perciformes. To gain insight into the role of GnIH in the regulation of reproduction in the order Pleuronectiformes, we first cloned the LPXRFa gene, the piscine ortholog of GnIH, in the half-smooth tongue sole...
December 6, 2017: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29223822/exposure-to-acrylamide-induces-cardiac-developmental-toxicity-in-zebrafish-during-cardiogenesis
#3
Mengmeng Huang, Jingjing Jiao, Jun Wang, Zhidan Xia, Yu Zhang
Acrylamide (AA), an environmental pollutant, has been linked to neurotoxicity, genotoxicity and carcinogenicity. AA is widely used to synthesize polymers for industrial applications, is widely found in Western-style carbohydrate-rich foods and cigarette smoke, and can also be detected in human umbilical cord blood and breast milk. This is the first study that demonstrated the cardiac developmental toxicity of AA in zebrafish embryos. Post-fertilization exposure to AA caused a clearly deficient cardiovascular system with a shrunken heart and abortive morphogenesis and function...
December 7, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/29223796/species-specific-rna-a-to-i-editing-of-mosquito-rdl-modulates-gaba-potency-and-influences-agonistic-potentiating-and-antagonistic-actions-of-ivermectin
#4
Jennina Taylor-Wells, Anish Senan, Isabel Bermudez, Andrew K Jones
The insect GABA receptor, RDL, is the target of several classes of pesticides. The peptide sequences of RDL are generally highly conserved between diverse insects. However, RNA A-to-I editing can effectively alter amino acid residues of RDL in a species specific manner, which can affect the potency of GABA and possibly insecticides. We report here that RNA A-to-I editing alters the gene products of Rdl in three mosquito disease vectors, recoding five amino acid residues in RDL of Aedes aegypti and six residues in RDLs of Anopheles gambiae and Culex pipiens, which is the highest extent of editing in RDL observed to date...
December 6, 2017: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29223706/cross-over-clinical-trial-for-evaluating-the-safety-of-camel-s-milk-intake-in-patients-who-are-allergic-to-cow-s-milk-protein
#5
E M Navarrete-Rodríguez, L A Ríos-Villalobos, C R Alcocer-Arreguín, B E Del-Rio-Navarro, J M Del Rio-Chivardi, O J Saucedo-Ramírez, J J L Sienra-Monge, R V Frias
BACKGROUND: Cow's milk protein allergy (CMPA) affects between 0.6 and 0.9% of the general population, and its treatment implies the total elimination of the intake of this protein. Camel's milk has been suggested as an alternative for patients over one year of age who suffer from CMPA due to the difference in the amino acid sequence from that of cow's milk. The objective of this study was to evaluate the safety and tolerability of camel's milk in children with CMPA. METHODS: Crossed clinical trial for the use of camel's milk vs...
December 6, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/29223705/functional-hepatocyte-clusters-on-bioactive-blend-silk-matrices-towards-generating-bioartificial-liver-constructs
#6
Guru Janani, Samit K Nandi, Biman B Mandal
The creation of in vitro functional hepatic tissue simulating micro-environmental niche of native liver is a keen area of research due to its demand in bioartificial liver (BAL) and cell-based tissue engineering. Here, we investigated the potential of novel blend (BA) silk scaffold fabricated by blending mulberry (Bombyx mori, BM) silk fibroin with cell adhesion motif (RGD) rich non-mulberry (Antheraea assamensis, AA) silk fibroin in generating a functional liver construct. Three-dimensional (3D) porous silk scaffolds (BM, AA and BA) were physico-chemically characterized and functionally evaluated using human hepatocarcinoma cells (HepG2) and primary neonatal rat hepatocytes...
December 6, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/29223645/amino-acid-supplements-in-critically-ill-patients
#7
REVIEW
Jan Gunst, Ilse Vanhorebeek, Steven E Thiessen, Greet Van den Berghe
Observational studies have associated a low amino acid intake with adverse outcome of critical illness. Although this finding could theoretically be explained by differences in feeding tolerance related to illness severity, guidelines have recommended to administer sufficient amounts of amino acids from early onwards in the disease course. Recently, however, several high quality randomized controlled trials have not shown benefit by early amino acid supplementation and some trials even found potential harm, thus questioning this recommendation...
December 6, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29223533/atomic-structure-and-enzymatic-insights-into-the-vancomycin-resistant-enterococcus-faecalis-v583-alkylhydroperoxide-reductase-subunit-c
#8
Ankita Pan, Asha Manikkoth Balakrishna, Wilson Nartey, Andreas Kohlmeier, Phat Vinh Dip, Shashi Bhushan, Gerhard Grüber
The Enterococcus faecalis alkyl hydroperoxide reductase complex (AhpR) with its subunits AhpC (EfAhpC) and AhpF (EfAhpF) are of paramount importance to restore redox homeostasis. Recently, the novel phenomenon of swapping of the catalytic domains of EfAhpF was uncovered. Here, we visualized its counterpart EfAhpC (187 residues) from the vancomycin-resistant E. faecalis (V583) bacterium by electron microscopy and demonstrate, that in contrast to other bacterial AhpCs, EfAhpC forms a stable decamer-ring irrespective of the redox state...
December 6, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29223463/terfenadine-metabolism-of-human-cytochrome-p450-2j2-containing-genetic-variations-g312r-p351l-and-p115l
#9
Dabin Jeong, Hyoung-Goo Park, Young-Ran Lim, Yejin Lee, Vitchan Kim, Myung-A Cho, Donghak Kim
The human cytochrome P450 2J2 is involved in several metabolic reactions, including the oxidation of important therapeutics and epoxidation of endogenous arachidonic acid. At least ten genetic variations of P450 2J2 have been identified, but their effects on enzymatic activity have not been clearly characterized. Here, we evaluated the functional effects of three genetic variations of P450 2J2 (G312R, P351L, and P115L). Recombinant enzymes of wild-type and three variant P450 2J2 were heterologously expressed in Escherichia coli and purified...
November 11, 2017: Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/29223455/recyclable-colorimetric-sensor-of-cr3-and-pb2-ions-simultaneously-using-a-zwitterionic-amino-acid-modified-gold-nanoparticles
#10
Fuming Sang, Xin Li, Zhizhou Zhang, Jia Liu, Guofu Chen
In this work, a rapid, simple and sensitive colorimetric sensor for simultaneous (or respective) detection of Cr3+ and Pb2+ using tyrosine functionalized gold nanoparticles (AuNPsTyr) has been developed. Tyrosine, a natural and zwitterionic amino acid, could be as a reducing and capping agent to synthesise AuNPs and allow for the simultaneous and selective detection of Cr3+ and Pb2+. Upon the addition of Cr3+ or Pb2+ (a combination of them), the color of AuNPsTyr solution changes from red to blue grey and the characteristic surface plasmon resonance (SPR) band is red-shifted to 580nm due to the aggregation of AuNPs...
November 27, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/29223389/a-multi-institutional-prospective-trial-in-the-veterans-affairs-health-system-confirms-the-4kscore-maintains-its-predictive-value-among-african-american-men
#11
Sanoj Punnen, Stephen J Freedland, Thomas J Polascik, Stacy Loeb, Michael C Risk, Stephen Savage, Sharad C Mathur, Edward Uchio, Yan Dong, Jonathan L Silberstein
PURPOSE: The 4Kscore test accurately detects aggressive prostate cancer and reduces unnecessary biopsies, however, its performance in African American (AA) men is unknown. This study assessed the performance of the 4Kscore test in a cohort of men with a large AA representation. MATERIALS AND METHODS: Men referred for a biopsy of the prostate at eight Veteran's Affairs Medical centers were prospectively enrolled. All men underwent phlebotomy for 4Kscore test assessment prior to biopsy of the prostate...
December 6, 2017: Journal of Urology
https://www.readbyqxmd.com/read/29223330/expression-of-a-populus-histone-deacetylase-gene-84khda903-in-tobacco-enhances-drought-tolerance
#12
Xujun Ma, Bing Zhang, Chunjuan Liu, Botong Tong, Tao Guan, Dean Xia
Histone deacetylases (HDACs) play a key role in regulating plant growth, development and stress responses. However, functions of HDACs in woody plants are largely unknown. In this study, a novel gene encoding a RPD3/HDA1-type histone deacetylase was cloned from 84K poplar (Populus alba×Populus glandulosa) and designated as 84KHDA903. The 84KHDA903 encodes a protein composed of 500 amino acid residues, which contains a conserved HDAC domain. Transient expression of 84KHDA903 in onion epidermal cells suggested that it was exclusively localized in nucleus...
December 2017: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/29223308/what-we-have-lost-mastitis-resistance-in-holstein-friesians-and-in-a-local-cattle-breed
#13
Giulio Curone, Joel Filipe, Paola Cremonesi, Erminio Trevisi, Massimo Amadori, Claudia Pollera, Bianca Castiglioni, Lauretta Turin, Vittorio Tedde, Daniele Vigo, Paolo Moroni, Andrea Minuti, Valerio Bronzo, M Filippa Addis, Federica Riva
In Holstein Friesian dairy cows, selective pressure for increased milk production has led to a higher propensity to disease, including mastitis, when compared to less selected and lower producing dairy breeds. The biology underpinning the higher resistance to disease of such "local breeds" is not fully understood. With the aim of investigating the factors associated to this phenomenon, we applied a multidisciplinary approach to compare innate immune response patterns, metabolic parameters, milk protein profiles and the milk microbiota in Holstein Friesian and Rendena cows reared in the same farm and under the same management conditions...
November 29, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/29223178/relative-influence-of-dietary-protein-and-energy-contents-on-lysine-requirements-and-voluntary-feed-intake-of-rainbow-trout-fry
#14
Mélusine Van Larebeke, Guillaume Dockx, Yvan Larondelle, Xavier Rollin
The effect of dietary digestible protein (DP) and/or digestible energy (DE) levels on lysine (Lys) requirements, Lys utilisation efficiency and voluntary feed intake (VFI) were studied in rainbow trout fry when Lys was the first limiting indispensable amino acid or in excess in the diet. Two trials were conducted at 11·6°C with eighty-one experimental diets, containing 280 g DP/kg DM (low protein (LP), trial 1), 600 g DP/kg DM (high protein (HP), trial 1) or 440 g DP/kg DM (medium protein (MP), trial 2), 17 MJ DE/kg (low energy (LE)), 19·5 MJ DE/kg (medium energy (ME)) or 22 MJ DE/kg (high energy (HE)), and nine Lys levels from deeply deficient to large excess (2·3-36 g/kg DM)...
December 10, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/29223157/self-organization-of-recombinant-membrane-porin-ompf-from-yersinia-pseudotuberculosis-in-aqueous-environments
#15
E V Sidorin, V A Khomenko, N Yu Kim, P S Dmitrenok, A M Stenkova, O D Novikova, T F Solov'eva
Recombinant porin OmpF (an integral protein of bacterial outer membrane) from Yersinia pseudotuberculosis was synthesized in Escherichia coli cells as inclusion bodies. By combining the methods of anion-exchange and gel filtration chromatographies, recombinant OmpF (rOmpF) was isolated as an individual protein in its denatured state, and its characteristic properties (molecular mass, N-terminal amino acid sequence, and hydrodynamic radius of the protein in 8 M urea solution) were determined. According to the data of gel filtration, dynamic light scattering, optical spectroscopy, and binding of the hydrophobic fluorescent probe 8-anilino-1-naphthalenesulfonic acid, the rOmpF is fully unfolded in 8 M urea and exists in random coil conformation...
November 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29223136/allele-exchange-at-the-epsps-locus-confers-glyphosate-tolerance-in-cassava
#16
Aaron W Hummel, Raj Deepika Chauhan, Tomas Cermak, Andrew M Mutka, Anupama Vijayaraghavan, Adam Boyher, Colby G Starker, Rebecca Bart, Daniel F Voytas, Nigel J Taylor
Effective weed control can protect yields of cassava (Manihot esculenta) storage roots (Doll and Piedrahita Cañola, 1978). Farmers could benefit from using herbicide with a tolerant cultivar. We applied traditional transgenesis and gene editing to generate robust glyphosate tolerance in cassava. By comparing promoters regulating expression of transformed 5-enolpyruvylshikimate-3-phosphate synthase (EPSPS) genes with various paired amino acid substitutions, we found that strong constitutive expression is required to achieve glyphosate tolerance during in vitro selection and in whole cassava plants...
December 9, 2017: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/29222874/a-homochiral-porous-organic-cage-with-large-cavity-and-pore-windows-for-the-efficient-gc-separation-of-enantiomers-and-positional-isomers
#17
Jun-Hui Zhang, Sheng-Ming Xie, Bang-Jin Wang, Pin-Gang He, Li-Ming Yuan
Porous organic cages composed of discrete cage molecules have attracted considerable recent attention as gas adsorption materials and separation media. In this study, we report a homochiral porous organic cage CC5 with a large cavity and pore windows as a novel stationary phase for high-resolution gas chromatographic separations. The capillary column was prepared by a static coating method. A large number of racemic compounds have been resolved on the coated capillary column, including derivatized amino acids, alcohols, alcohol amines, esters, ethers, ketones, and epoxides...
December 9, 2017: Journal of Separation Science
https://www.readbyqxmd.com/read/29222847/synthesis-of-novel-norsufentanil-analogues-via-a-four-component-ugi-reaction-and-in-vivo-docking-and-qsar-studies-of-their-analgesic-activity
#18
Majid Nami, Peyman Salehi, Minoo Dabiri, Morteza Bararjanian, Sajjad Gharaghani, Mona Khoramjouy, Ahmed Al-Harrasi, Mehrdad Faizi
Novel substituted amino acid tethered norsufentanil derivatives were synthesized by the four-component Ugi reaction. Norsufentanil was reacted with succinic anhydride to produce the corresponding carboxylic acid. The resulting carboxylic acid has undergone a multicomponent reaction with different aldehydes, amines, and isocyanides to produce a library of the desired compounds. In all cases, amide bond rotation was observed in the NMR spectra. In vivo analgesic activity of the synthesized compounds was evaluated by a tail flick test...
December 8, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/29222836/biochemical-and-structural-insights-into-a-thermostable-cellobiohydrolase-from-myceliophthora-thermophila
#19
Marco Antonio Seiki Kadowaki, Paula Higasi, Mariana Ortiz de Godoy, Rolf A Prade, Igor Polikarpov
Cellobiohydrolases hydrolyze cellulose, a linear polymer with glucose monomers linked exclusively by β-1,4 glycosidic linkages. The widespread hydrogen bonding network tethers individual cellulose polymers forming crystalline cellulose, which prevent the access of hydrolytic enzymes and water molecules. The most abundant enzyme secreted by Myceliophthora thermophila M77 in response to the presence of biomass is the cellobiohydrolase MtCel7A, which is composed by a GH7-catalytic domain (CD), a linker and a CBM1-type carbohydrate binding module...
December 8, 2017: FEBS Journal
https://www.readbyqxmd.com/read/29222806/identification-of-udp-glucose-binding-site-in-glycosyltransferase-domain-of-sucrose-phosphate-synthase-from-sugarcane-saccharum-officinarum-by-structure-based-site-directed-mutagenesis
#20
REVIEW
Widhi Dyah Sawitri, Siti Nurul Afidah, Atsushi Nakagawa, Toshiharu Hase, Bambang Sugiharto
Sucrose phosphate synthase (SPS) is believed to be the key enzyme for controlling the biosynthesis of sucrose. SPSs consist of a functional glycosyltransferase domain that shares conserved residues with the glycosyltransferase domain of sucrose biosynthesis-related protein. The formation of sucrose-6-phosphate is catalyzed by SPS with the transfer of a glycosyl group of uridine diphosphate glucose (UDP-G) as an activated donor sugar to a fructose-6-phosphate as a sugar acceptor. However, understanding of the mechanism of catalytic and substrate binding in SPS is very limited...
December 8, 2017: Biophysical Reviews
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