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https://www.readbyqxmd.com/read/28216230/activation-of-a-cryptic-splice-site-in-the-mitochondrial-elongation-factor-gfm1-causes-combined-oxphos-deficiency
#1
Mariella T Simon, Bobby G Ng, Marisa W Friederich, Raymond Y Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J Buckingham, Richard Chang, Jay Shendure, Deborah A Nickerson, Michael J Bamshad, Johan L K Van Hove, Hudson H Freeze, Jose E Abdenur
We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms were suggestive of a type I congenital disorder of glycosylation (CDG). While exome sequencing was negative for CDG related candidate genes, the testing revealed compound heterozygous mutations in the mitochondrial elongation factor G gene (GFM1). One of the mutations had been reported previously while the second, novel variant was found deep in intron 6, activating a cryptic splice site...
February 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28182562/in-silico-modeling-of-the-functional-role-of-reduced-sialylation-in-sodium-and-potassium-channel-gating-of-mouse-ventricular-myocytes
#2
Dongping Du, Hui Yang, Andrew R Ednie, Eric S Bennett
Cardiac ion channels are highly glycosylated membrane proteins, with up to 30% of the protein's mass containing glycans. Heart diseases often accompany individuals with congenital disorders of glycosylation (CDG). However, cardiac dysfunction among CDG patients is not yet fully understood. There is an urgent need to study how aberrant glycosylation impacts cardiac electrical signaling. Our previous works reported that congenitally reduced sialylation achieved through deletion of the sialyltransferase gene, ST3Gal4, leads to altered gating of voltage-gated Na+ and K+ channels (Nav and Kv, respectively)...
February 6, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28165356/n-glycoprofiling-analysis-for-carbohydrate-composition-and-site-occupancy-determination-in-a-poly-glycosylated-protein-human-thyrotropin-of-different-origins
#3
Maria Teresa C P Ribela, Renata Damiani, Felipe D Silva, Eliana R Lima, João E Oliveira, Cibele N Peroni, Peter A Torjesen, Carlos R Soares, Paolo Bartolini
Human thyrotropin (hTSH) is a glycoprotein with three potential glycosylation sites: two in the α-subunit and one in the β-subunit. These sites are not always occupied and occupancy is frequently neglected in glycoprotein characterization, even though it is related to folding, trafficking, initiation of inflammation and host defense, as well as congenital disorders of glycosylation (CDG). For the first time N-glycoprofiling analysis was applied to the site-occupancy determination of two native pituitary hTSH, in comparison with three recombinant preparations of hTSH, a widely used biopharmaceutical...
February 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28139241/a-population-based-study-on-congenital-disorders-of-protein-n-and-combined-with-o-glycosylation-experience-in-clinical-and-genetic-diagnosis
#4
Celia Pérez-Cerdá, Ma Luisa Girós, Mercedes Serrano, M Jesús Ecay, Laura Gort, Belén Pérez Dueñas, Celia Medrano, Alfredo García-Alix, Rafael Artuch, Paz Briones, Belén Pérez
OBJECTIVE: To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during the last 20 years. STUDY DESIGN: Patients were selected among those presenting with multisystem disease of unknown etiology. The isoforms of transferrin and of ApoC3 and dolichols were analyzed in serum; phosphomannomutase and mannosephosphate isomerase activities were measured in fibroblasts. Conventional or massive parallel sequencing (customized panel or Illumina Clinical-Exome Sequencing TruSight One Gene Panel) was used to identify genes and mutations...
January 27, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28122681/phenotypic-and-genotypic-spectrum-of-congenital-disorders-of-glycosylation-type-i-and-type-ii
#5
Amal Al Teneiji, Theodora U J Bruun, Sarah Sidky, Dawn Cordeiro, Ronald D Cohn, Roberto Mendoza-Londono, Mahendranath Moharir, Julian Raiman, Komudi Siriwardena, Lianna Kyriakopoulou, Saadet Mercimek-Mahmutoglu
BACKGROUND: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective cohort study to determine spectrum of phenotype and genotype and prevalence of the different subtypes of CDG-I and CDG-II. MATERIAL AND METHODS: All patients with CDG-I and CDG-II evaluated in our institution's Metabolic Genetics Clinics were included...
January 3, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#6
REVIEW
D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening...
January 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28088503/evidence-for-splice-transcript-variants-of-tmem165-a-gene-involved-in-cdg
#7
Marie-Ange Krzewinski-Recchi, Sven Potelle, Anne-Marie Mir, Dorothée Vicogne, Eudoxie Dulary, Sandrine Duvet, Willy Morelle, Geoffroy de Bettignies, François Foulquier
BACKGROUND: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular epiphyses and thin bone cortex. TMEM165 protein is highly conserved in evolution and belongs to the family of UPF0016 membrane proteins which could be an unique group of Ca(2+)/H(+) antiporters regulating Ca(2+) and pH homeostasis and mainly localized in the Golgi apparatus...
January 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28045519/7-carboxy-7-deazaguanine-synthase-a-radical-s-adenosyl-l-methionine-enzyme-with-polar-tendencies
#8
Nathan A Bruender, Tsehai A J Grell, Daniel P Dowling, Reid M McCarty, Catherine L Drennan, Vahe Bandarian
Radical S-adenosyl-l-methionine (SAM) enzymes are widely distributed and catalyze diverse reactions. SAM binds to the unique iron atom of a site-differentiated [4Fe-4S] cluster and is reductively cleaved to generate a 5'-deoxyadenosyl radical, which initiates turnover. 7-Carboxy-7-deazaguanine (CDG) synthase (QueE) catalyzes a key step in the biosynthesis of 7-deazapurine containing natural products. 6-Carboxypterin (6-CP), an oxidized analogue of the natural substrate 6-carboxy-5,6,7,8-tetrahydropterin (CPH4), is shown to be an alternate substrate for CDG synthase...
February 8, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28017302/cardiodynamicsgram-as-a-new-diagnostic-tool-in-coronary-artery-disease-patients-with-nondiagnostic-electrocardiograms
#9
Muqing Deng, Min Tang, Cong Wang, Liang Shan, Linfeng Zhang, Jingtao Zhang, Weiming Wu, Ling Xia
Cardiodynamicsgram (CDG) has emerged recently as a noninvasive spatiotemporal electrocardiographic method for subtle cardiac dynamics information analysis within electrocardiogram (ECG). This study sought to evaluate the clinical utility of CDG for early coronary artery disease (CAD) detection in suspected patients with CAD presenting with nondiagnostic ECGs. A total of 421 suspected patients with CAD presenting with nondiagnostic ECG were enrolled. Standard 12-lead ECG and CDG were performed simultaneously, 1 day before invasive coronary angiography...
December 2, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#10
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27966828/the-onset-of-puberty-in-cameroon-dwarf-goats-kept-as-pets-in-northwestern-croatia
#11
D Đuričić, S Vince, H Valpotić, I Žura Žaja, R Turk, M Lojkić, I Getz, V Berta, M Samardžija
The aim of this study was to determine onset of puberty in Cameroon Dwarf goats (CDGs) kept as pets in northwestern Croatia by determining progesterone (PGS) and insulin-like growth factor-I (IGF-I) levels in the blood by RIA methods. The first cyclic ovarian activity was estimated according to hormone profiles as determined in CDG in a moderate climate environment. Sixteen female CDG kids were kept in stables with access to pasture which provided space for exercise. The goat kids born in winter (December-January-February), spring (March-April-May), summer (June-July-August) and autumn (September-October-November) were assigned into four groups according to the season of the year of birth (n = 4 in each group)...
December 14, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27862579/mutations-in-trappc11-are-associated-with-a-congenital-disorder-of-glycosylation
#12
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...
February 2017: Human Mutation
https://www.readbyqxmd.com/read/27859789/radical-reaction-control-in-the-adomet-radical-enzyme-cdg-synthase-quee-consolidate-destabilize-accelerate
#13
Christof M Jäger, Anna K 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 Mg(2+) , 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), reveals a directing role of Mg(2+) 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
#14
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
#15
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
#16
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...
February 2017: 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
#17
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
#18
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
#19
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
#20
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)...
November 2016: Free Radical Research
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