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https://www.readbyqxmd.com/read/27862579/mutations-in-trappc11-are-associated-with-a-congenital-disorder-of-glycosylation
#1
Leslie Matalonga, Miren Bravo, Carla Serra-Peinado, Elisabeth García-Pelegrí, Olatz Ugarteburu, Silvia Vidal, Maria Llambrich, Ester Quintana, Pedro Fuster-Jorge, Maria Nieves Gonzalez-Bravo, Sergi Beltran, Joaquin Dopazo, Francisco Garcia-Garcia, François Foulquier, Gert Matthijs, Philippa Mills, Antonia Ribes, Gustavo Egea, Paz Briones, Frederic Tort, Marisa Girós
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Golgi apparatus (GA), and the vesicular trafficking from the ER to the ER-Golgi intermediate compartment (ERGIC) have been found to be associated with CDG. Here, we report a patient with defects in both N- and O-glycosylation combined with a delayed vesicular transport in the GA due to mutations in TRAPPC11, a subunit of the TRAPPIII complex...
November 10, 2016: Human Mutation
https://www.readbyqxmd.com/read/27859789/radical-reaction-control-in-the-adomet-radical-enzyme-cdg-synthase-quee-consolidate-destabilize-accelerate
#2
Christof Martin Jäger, Anna Kristina Croft
Controlling radical intermediates and thus catalysing and directing complex radical reactions is a central feature of S-Adensosylmethionine (SAM) dependent radical enzymes. We report ab initio and DFT calculations highlighting the specific influence of ion complexation, including Mg2+, identified as a key catalytic component on radical stability and reaction control in 7-Carboxy-7-deazaguanine synthase (QueE). Radical Stabilisation Energies (RSEs) of key intermediates and radical clock-like model systems of the enzyme-catalysed rearrangement of 6-carboxytetrahydropterin (CPH4), reveal Mg2+ as having a directing role in destabilising both the substrate-derived radical and corresponding side reactions, with the effect that the experimentally-observed rearrangement becomes dominant over possible alternatives...
November 10, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27855707/a-novel-codon-based-de-bruijn-graph-algorithm-for-gene-construction-from-unassembled-transcriptomes
#3
Gongxin Peng, Peifeng Ji, Fangqing Zhao
Most gene prediction methods detect coding sequences from transcriptome assemblies in the absence of closely related reference genomes. Such methods are of limited application due to high transcript fragmentation and extensive assembly errors, which may lead to redundant or false coding sequence predictions. We present inGAP-CDG, which can construct full-length and non-redundant coding sequences from unassembled transcriptomes by using a codon-based de Bruijn graph to simplify the assembly process and a machine learning-based approach to filter false positives...
November 17, 2016: Genome Biology
https://www.readbyqxmd.com/read/27788260/correction-natural-killer-cell-receptors-and-cytotoxic-activity-in-phosphomannomutase-2-deficiency-pmm2-cdg
#4
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles
[This corrects the article DOI: 10.1371/journal.pone.0158863.].
2016: PloS One
https://www.readbyqxmd.com/read/27774737/pharmacological-chaperoning-a-potential-treatment-for-pmm2-cdg
#5
Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez, Belén Pérez
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic strategy involving pharmacological chaperones (PC) to rescue PMM2 loss-of-function mutations. The present work describes the high-throughput screening, by differential scanning fluorimetry, of 10,000 low-molecular-weight compounds from a commercial library, to search for possible PCs for the enzyme PMM2...
October 24, 2016: Human Mutation
https://www.readbyqxmd.com/read/27765891/evaluation-of-reference-urinary-excretion-concentrations-of-selected-radionuclides-corresponding-to-clinical-decision-guides-for-application-in-radiological-and-in-nuclear-emergencies
#6
A A Dos Reis, L Bertelli, W O Sousa
Radiological or nuclear emergency situations could lead to incorporation of radionuclides by the population. Intakes of radionuclides can be evaluated through measurements of radionuclides present in organs and tissues, or in urinary and/or fecal excretion. In an emergency situation involving a large number of people, the decision to provide medical treatment to an individual will likely be based on a single measurement. For that purpose, the National Council on Radiation Protection and Measurements (NCRP) has presented the Clinical Decision Guide (CDG) quantity, which corresponds to an intake amount of a radionuclide by an individual for which treatment is recommended...
October 7, 2016: Radiation Protection Dosimetry
https://www.readbyqxmd.com/read/27743886/a-case-of-early-onset-epileptic-encephalopathy-with-de-novo-mutation-in-slc35a2-clinical-features-and-treatment-for-epilepsy
#7
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
https://www.readbyqxmd.com/read/27737326/effects-of-vitamin-d-supplementation-on-pulmonary-function-in-postmenopausal-women-following-an-aquatic-exercise-program
#8
Rodrigo Nolasco, Linda D F Moreira, Danilo S Bocalini, Fernanda C A O Fronza, Rosangela Villa Marin, Marise Lazaretti-Castro
Objective: This study sought to investigate the effects of vitamin D supplementation and aquatic exercise on pulmonary function in postmenopausal women. Materials and methods: This prospective and controlled study included 104 women (62 ± 6.5 years) divided into three groups: a control group lacking vitamin D and calcium supplementation which remained sedentary (CG; n = 17); a control group receiving vitamin D and calcium supplementation which remained sedentary (CDG, n = 33); and a group that completed aquatic exercises three times a week and received vitamin D and calcium supplementation (DTG, n = 54)...
October 10, 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27733084/radical-induced-purine-lesion-formation-is-dependent-on-dna-helical-topology
#9
Michael A Terzidis, Andreea Prisecaru, Zara Molphy, Niall Barron, Antonio Randazzo, Elise Dumont, Marios G Krokidis, Andrew Kellett, Chryssostomos Chatgilialoglu
Herein we report the quantification of purine lesions arising from gamma-radiation sourced hydroxyl radicals (HO(•)) on tertiary dsDNA helical forms of supercoiled (SC), open circular (OC) and linear (L) conformation, along with single-stranded folded and non-folded sequences of guanine rich DNA in selected G-quadruplex structures. We identify that DNA helical topology and folding plays major, and unexpected, roles in the formation of 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxo-dG) and 8-oxo-7,8-dihydro-2'-deoxyadenosine (8-oxo-dA), along with tandem-type purine lesions 5',8-cyclo-2'-deoxyguanosine (5',8-cdG) and 5',8-cyclo-2'-deoxyadenosine (5',8-cdA)...
October 13, 2016: Free Radical Research
https://www.readbyqxmd.com/read/27726401/silver-nanodisk-monolayers-with-surface-coverage-gradients-for-use-as-optical-rulers-and-protractors
#10
Mahmoud A Mahmoud
Colloidal silver nanodisks (AgNDs) are assembled into a monolayer with a coverage density gradient (CDG) on the surface of flat and cylindrical substrates using the Langmuir- Blodgett (LB) technique. Compressing the LB monolayers during transfer to the substrates causes the CDG assembly of the AgNDs. By functionalizing the AgNDs with polyethylene glycol, it is possible to control their order inside the LB monolayer assembly by changing the deposition surface pressure. Well-separated AgNDs, 2D aggregates with different amounts of particles, and highly packed 2D arrays are formed as the deposition surface pressure is increased...
October 11, 2016: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/27725718/glycosylation-site-occupancy-in-health-congenital-disorder-of-glycosylation-and-fatty-liver-disease
#11
Andreas J Hülsmeier, Micha Tobler, Patricie Burda, Thierry Hennet
Glycosylation is an integral part in health and disease, as emphasized by the growing number of identified glycosylation defects. In humans, proteins are modified with a diverse range of glycoforms synthesized in complex biosynthetic pathways. Glycosylation disorders have been described in congenital disorders of glycosylation (CDG) as well as in acquired disease conditions such and non-alcoholic fatty liver disease (NAFLD). A hallmark in a subset of CDG cases is the reduced glycosylation site occupancy of asparagine-linked glycans...
October 11, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27670784/quantitative-study-of-yeast-alg1-beta-1-4-mannosyltransferase-activity-a-key-enzyme-involved-in-protein-n-glycosylation
#12
Sheng-Tao Li, Ning Wang, Sha Xu, Jian Yin, Hideki Nakanishi, Neta Dean, Xiao-Dong Gao
BACKGROUND: Asparagine (N)-linked glycosylation begins with a stepwise synthesis of the dolichol-linked oligosaccharide (DLO) precursor, Glc3Man9GlcNAc2-PP-Dol, which is catalyzed by a series of endoplasmic reticulum membrane-associated glycosyltransferases. Yeast ALG1 (asparagine-linked glycosylation 1) encodes a β-1, 4 mannosyltransferase that adds the first mannose onto GlcNAc2-PP-Dol to produce a core trisaccharide Man1GlcNAc2-PP-Dol. ALG1 is essential for yeast viability, and in humans mutations in the ALG1 cause congenital disorders of glycosylation known as ALG1-CDG...
September 23, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27669250/an-online-dictionary-learning-based-compressive-data-gathering-algorithm-in-wireless-sensor-networks
#13
Donghao Wang, Jiangwen Wan, Junying Chen, Qiang Zhang
To adapt to sense signals of enormous diversities and dynamics, and to decrease the reconstruction errors caused by ambient noise, a novel online dictionary learning method-based compressive data gathering (ODL-CDG) algorithm is proposed. The proposed dictionary is learned from a two-stage iterative procedure, alternately changing between a sparse coding step and a dictionary update step. The self-coherence of the learned dictionary is introduced as a penalty term during the dictionary update procedure. The dictionary is also constrained with sparse structure...
2016: Sensors
https://www.readbyqxmd.com/read/27669157/a-patient-registry-to-improve-patient-safety-recording-general-neurosurgery-complications
#14
Johannes Sarnthein, Lennart Stieglitz, Pierre-Alain Clavien, Luca Regli
BACKGROUND: To improve the transparency of the local health care system, treatment cost was recently referenced to disease related groups. Treatment quality must be legally documented in a patient registry, in particular for the highly specialized treatments provided by neurosurgery departments. METHODS: In 2013 we have installed a patient registry focused on cranial neurosurgery. Surgeries are characterized by indication, treatment, location and other specific neurosurgical parameters...
2016: PloS One
https://www.readbyqxmd.com/read/27591658/classification-of-congenital-disorders-of-glycosylation-based-on-analysis-of-transferrin-glycopeptides-by-capillary-liquid-chromatography-mass-spectrometry
#15
Albert Barroso, Estela Giménez, Fernando Benavente, José Barbosa, Victoria Sanz-Nebot
In this work, we describe a multivariate data analysis approach for data exploration and classification of the complex and large data sets generated to study the alteration of human transferrin (Tf) N-glycopeptides in patients with congenital disorders of glycosylation (CDG). Tf from healthy individuals and two types of CDG patients (CDG-I and CDG-II) is purified by immunoextraction from serum samples before trypsin digestion and separation by capillary liquid chromatography mass spectrometry (CapLC-MS). Following a targeted data analysis approach, partial least squares discriminant analysis (PLS-DA) is applied to the relative abundance of Tf glycopeptide glycoforms obtained after integration of the extracted ion chromatograms of the different samples...
November 1, 2016: Talanta
https://www.readbyqxmd.com/read/27574325/use-of-clinical-decision-guidance-as-a-new-public-health-tool-for-the-medical-management-of-internal-contamination-in-radiological-mass-casualty-scenarios
#16
Albert L Wiley
This review is a discussion of special issues associated with the medical and public health management of persons at risk of internal contamination from radionuclides, following various radiological mass-casualty scenarios, as well as definition, discussion and use of the Clinical Decision Guidance (CDG) in such scenarios. Specific medical countermeasures are available for reducing the internal radiation dose and the subsequent stochastic and deterministic risks to persons internally contaminated with radionuclides from nuclear power plant, fuel processing and nuclear weapon accidents/incidents...
September 2016: Radiation Protection Dosimetry
https://www.readbyqxmd.com/read/27570262/development-of-an-instant-coffee-enriched-with-chlorogenic-acids
#17
Marinês Paula Corso, Josiane Alessandra Vignoli, Marta de Toledo Benassi
The objective of this study was to present possible formulations for an instant coffee product enriched with chlorogenic acids for the Brazilian market. Formulations were prepared with different concentrations of freeze dried extracts of green Coffea canephora beans (G) added to freeze dried extracts of roasted Coffea arabica (A) and Coffea canephora (C). Medium (M) and dark (D) roasting degrees instant coffee were produced (AM, AD, CM and CD) to obtain four formulations with green extract addition (AMG, ADG, CMG and CDG)...
March 2016: Journal of Food Science and Technology
https://www.readbyqxmd.com/read/27513963/progressive-decline-in-height-standard-deviation-scores-in-the-first-5-years-of-life-distinguished-idiopathic-growth-hormone-deficiency-from-familial-short-stature-and-constitutional-delay-of-growth
#18
Juliane Rothermel, Nina Lass, Christina Toschke, Thomas Reinehr
BACKGROUND: Familial short stature (FSS) and constitutional delay of growth (CDG) are the most frequent norm variants in children presenting with short stature. Knowing the growth patterns of these entities in the first years of life might be helpful to distinguish them from growth hormone deficiency (GHD) or other chronic diseases. METHODS: We studied the height in the first 5 years of life in 26 children with FSS, in 38 children with CDG and in 14 children with idiopathic GHD...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27502837/classical-galactosaemia-and-cdg-the-n-glycosylation-interface-a-review
#19
Ashwini Maratha, Hugh-Owen Colhoun, Ina Knerr, Karen P Coss, Peter Doran, Eileen P Treacy
Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, and shared GALT genotypes remain poorly understood. Systemic abnormal glycosylation has been proposed to contribute substantially to the ongoing pathophysiology...
August 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27498540/erratum-to-alg6-cdg-a-recognizable-phenotype-with-epilepsy-proximal-muscle-weakness-ataxia-and-behavioral-and-limb-anomalies
#20
Eva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mulder, Estela Rubio-Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D G Horovitz, Carolina Fischinger Moura de Souza, Ida V D Schwartz, Andrew Green, Mohammed Al-Owain, Graciella Uziel, Sabine Sigaudy, Brigitte Chabrol, Franc-Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J Lefeber, Ron A Wevers
No abstract text is available yet for this article.
September 2016: Journal of Inherited Metabolic Disease
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