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https://www.readbyqxmd.com/read/28919057/adp-dependent-phosphofructokinases-from-the-archaeal-order-methanosarcinales-display-redundant-glucokinase-activity
#1
Ricardo A Zamora, Felipe Gonzalez-Órdenes, Victor Castro-Fernández, Victoria Guixé
The genome of Methanosarcinales organisms presents both ADP-dependent glucokinase and phosphofructokinase genes. However, Methanococcoides burtonii has a truncate glucokinase gene with a large deletion at the C-terminal, where the catalytic GXGD motif is located. Characterization of its phosphofructokinase annotated protein shows that is a bifunctional enzyme able to supply the absence of the glucokinase activity. Moreover, kinetic analyses of the phosphofructokinase annotated enzyme from, Methanohalobium evestigatum demonstrated that this enzyme is also bifunctional...
September 14, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28917552/crispr-correction-of-the-prkag2-gene-mutation-in-the-patient-s-ipsc-derived-cardiomyocytes-eliminates-the-electrophysiological-and-structural-abnormalities
#2
Ronen Ben Jehuda, Binyamin Eisen, Yuval Shemer, Lucy N Mekies, Agnes Szantai, Irina Reiter, Huanhuan Cui, Kaomei Guan, Shiraz Haron-Khun, Dov Freimark, Silke R Sperling, Mihaela Gherghiceanu, Michael Arad, Ofer Binah
BACKGROUND: Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate-kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial-Wolff-Parkinson-White syndrome (WPW). Patients carrying the R302Q mutation in PRKAG2 present sinus bradycardia, escape rhythms, ventricular pre-excitation, supraventricular tachycardia and atrioventricular block. This mutation affects AMPK activity and increases glycogen storage in cardiomyocytes. The link between glycogen storage, WPW, HCM and arrhythmias remains unknown...
September 13, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28914857/-characteristics-of-lipid-metabolism-and-the-cardiovascular-system-in-glycogenosis-types-i-and-iii
#3
N V Polenova, T V Strokova, A V Starodubova
Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. The review describes the paradox of vascular resistance to the development of early atherosclerosis despite the proatherogenic composition of lipids in the patients of this group...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28905000/transcriptome-analysis-of-polyhydroxybutyrate-cycle-mutants-reveals-discrete-loci-connecting-nitrogen-utilization-and-carbon-storage-in-sinorhizobium-meliloti
#4
Maya D'Alessio, Ricardo Nordeste, Andrew C Doxey, Trevor C Charles
Polyhydroxybutyrate (PHB) and glycogen polymers are produced by bacteria as carbon storage compounds under unbalanced growth conditions. To gain insights into the transcriptional mechanisms controlling carbon storage in Sinorhizobium meliloti, we investigated the global transcriptomic response to the genetic disruption of key genes in PHB synthesis and degradation and in glycogen synthesis. Under both nitrogen-limited and balanced growth conditions, transcriptomic analysis was performed with genetic mutants deficient in PHB synthesis (phbA, phbB, phbAB, and phbC), PHB degradation (bdhA, phaZ, and acsA2), and glycogen synthesis (glgA1)...
September 2017: MSystems
https://www.readbyqxmd.com/read/28900784/liver-involvement-in-urea-cycle-disorders-a-review-of-the-literature
#5
REVIEW
Adrien Bigot, Michel C Tchan, Benjamin Thoreau, Hélène Blasco, François Maillot
Urea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients leads to a better knowledge of the long-term natural history of the condition and to the reporting of previously unnoticed manifestations. Despite historical evidence of liver involvement in UCDs, little attention has been paid to this organ until recently. Hence, we reviewed the available scientific evidence on acute and chronic liver dysfunction and liver carcinogenesis in UCDs and discuss their pathophysiology...
September 12, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28888852/renal-endoplasmic-reticulum-stress-is-coupled-to-impaired-autophagy-in-a-mouse-model-of-gsd-ia
#6
Benjamin L Farah, Dustin J Landau, Yajun Wu, Rohit A Sinha, Alwin Loh, Boon-Huat Bay, Dwight D Koeberl, Paul M Yen
GSD Ia (von Gierke Disease, Glycogen Storage Disease Type Ia) is a devastating genetic disorder with long-term sequelae, such as non-alcoholic fatty liver disease and renal failure. Down-regulated autophagy is involved in the development of hepatic metabolic dysfunction in GSD Ia; however, the role of autophagy in the renal pathology is unknown. Here we show that autophagy is impaired and endoplasmic reticulum (ER) stress is increased in the kidneys of a mouse model of GSD Ia. Induction of autophagy by rapamycin also reduces this ER stress...
September 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28888851/long-term-longitudinal-study-of-muscle-function-in-patients-with-glycogen-storage-disease-type-iiia
#7
Valérie Decostre, Pascal Laforêt, Marie De Antonio, Kahina Kachetel, Aurélie Canal, Gwenn Ollivier, Aleksandra Nadaj-Pakleza, François M Petit, Karim Wahbi, Abdallah Fayssoil, Bruno Eymard, Anthony Behin, Philippe Labrune, Jean-Yves Hogrel
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by mutations in the AGL gene coding for the glycogen debranching enzyme. Current therapy is based on dietary adaptations but new preclinical therapies are emerging. The identification of outcome measures which are sensitive to disease progression becomes critical to assess the efficacy of new treatments in upcoming clinical trials. In order to prepare future longitudinal studies or therapeutic trials with large cohorts, information about disease progression is required...
August 30, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28874182/long-term-neurologic-and-cardiac-correction-by-intrathecal-gene-therapy-in-pompe-disease
#8
J Hordeaux, L Dubreil, C Robveille, J Deniaud, Q Pascal, B Dequéant, J Pailloux, L Lagalice, M Ledevin, C Babarit, P Costiou, F Jamme, M Fusellier, Y Mallem, C Ciron, C Huchet, C Caillaud, M-A Colle
Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. The neurologic phenotype and the persistence of selective muscular weakness in some patients could be attributed to the central nervous system (CNS) storage uncorrected by ERT. GAA-KO 6neo/6neo mice were treated with a single intrathecal administration of adeno-associated recombinant vector (AAV) mediated gene transfer of human GAA at 1 month and their neurologic, neuromuscular, and cardiac function was assessed for 1 year...
September 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28851850/toxoplasma-gondii-requires-glycogen-phosphorylase-for-balancing-amylopectin-storage-and-for-efficient-production-of-brain-cysts
#9
Tatsuki Sugi, Vincent Tu, Yanfen Ma, Tadakimi Tomita, Louis M Weiss
In immunocompromised hosts, latent infection with Toxoplasma gondii can reactivate from tissue cysts, leading to encephalitis. A characteristic of T. gondii bradyzoites in tissue cysts is the presence of amylopectin granules. The regulatory mechanisms and role of amylopectin accumulation in this organism are not fully understood. The T. gondii genome encodes a putative glycogen phosphorylase (TgGP), and mutants were constructed to manipulate the activity of TgGP and to evaluate the function of TgGP in amylopectin storage...
August 29, 2017: MBio
https://www.readbyqxmd.com/read/28839196/development-of-novel-monoclonal-antibodies-against-starch-and-ulvan-implications-for-antibody-production-against-polysaccharides-with-limited-immunogenicity
#10
Maja G Rydahl, Stjepan K Krac Un, Jonatan U Fangel, Gurvan Michel, Alexia Guillouzo, Sabine Génicot, Jozef Mravec, Jesper Harholt, Casper Wilkens, Mohammed Saddik Motawia, Birte Svensson, Olivier Tranquet, Marie-Christine Ralet, Bodil Jørgensen, David S Domozych, William G T Willats
Monoclonal antibodies (mAbs) are widely used and powerful research tools, but the generation of mAbs against glycan epitopes is generally more problematic than against proteins. This is especially significant for research on polysaccharide-rich land plants and algae (Viridiplantae). Most antibody production is based on using single antigens, however, there are significant gaps in the current repertoire of mAbs against some glycan targets with low immunogenicity. We approached mAb production in a different way and immunised with a complex mixture of polysaccharides...
August 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28827282/a-novel-image-based-high-throughput-screening-assay-discovers-therapeutic-candidates-for-adult-polyglucosan-body-disease
#11
Leonardo J Solemsky, Netaly Khazanov, Hanoch Senderowitz, Peixiang Wang, Berge A Minassian, Igor M Ferreira, Wyatt W Yue, Alexander Lossos, Miguel Weil, Or Kakhlon
Glycogen storage disorders (GSDs) are caused by excessive accumulation of glycogen. Some GSDs (Adult Polyglucosan Body Disease (APBD), Tarui and Lafora diseases) are caused by intracellular accumulation of insoluble inclusions, called polyglucosan bodies (PB), which are chiefly composed of malconstructed glycogen. We developed an APBD patient skin fibroblast cell-based assay for PB identification, where the bodies are identified as amylase-resistant periodic acid-Schiff's (PAS) stained structures, and quantified...
August 21, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28805660/prolyl-hydroxylase-2-inactivation-enhances-glycogen-storage-and-promotes-excessive-neutrophilic-responses
#12
Pranvera Sadiku, Joseph A Willson, Rebecca S Dickinson, Fiona Murphy, Alison J Harris, Amy Lewis, David Sammut, Ananda S Mirchandani, Eilise Ryan, Emily R Watts, A A Roger Thompson, Helen M Marriott, David H Dockrell, Cormac T Taylor, Martin Schneider, Patrick H Maxwell, Edwin R Chilvers, Massimilliano Mazzone, Veronica Moral, Chris W Pugh, Peter J Ratcliffe, Christopher J Schofield, Bart Ghesquiere, Peter Carmeliet, Moira Kb Whyte, Sarah R Walmsley
Fully activated innate immune cells are required for effective responses to infection, but their prompt deactivation and removal are essential for limiting tissue damage. Here, we have identified a critical role for the prolyl hydroxylase enzyme Phd2 in maintaining the balance between appropriate, predominantly neutrophil-mediated pathogen clearance and resolution of the innate immune response. We demonstrate that myeloid-specific loss of Phd2 resulted in an exaggerated inflammatory response to Streptococcus pneumonia, with increases in neutrophil motility, functional capacity, and survival...
August 14, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28793909/-6-gingerol-from-zingiber-officinale-potentiates-glp-1-mediated-glucose-stimulated-insulin-secretion-pathway-in-pancreatic-%C3%AE-cells-and-increases-rab8-rab10-regulated-membrane-presentation-of-glut4-transporters-in-skeletal-muscle-to-improve-hyperglycemia-in
#13
Mehdi Bin Samad, Md Nurul Absar Bin Mohsin, Bodiul Alam Razu, Mohammad Tashnim Hossain, Sinayat Mahzabeen, Naziat Unnoor, Ishrat Aklima Muna, Farjana Akhter, Ashraf Ul Kabir, J M A Hannan
BACKGROUND: [6]-Gingerol, a major component of Zingiber officinale, was previously reported to ameliorate hyperglycemia in type 2 diabetic mice. Endocrine signaling is involved in insulin secretion and is perturbed in db/db Type-2 diabetic mice. [6]-Gingerol was reported to restore the disrupted endocrine signaling in rodents. In this current study on Lepr(db/db) diabetic mice, we investigated the involvement of endocrine pathway in the insulin secretagogue activity of [6]-Gingerol and the mechanism(s) through which [6]-Gingerol ameliorates hyperglycemia...
August 9, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28777846/-identification-of-a-novel-mutation-of-agl-gene-in-two-siblings-affected-with-glycogen-storage-disease-type-iiia
#14
Li Guo, Weixia Lin, Man Mao, Yuanzong Song
OBJECTIVE: To detect potential mutation of the AGL gene in two siblings affected with glycogen storage disease type IIIa. METHODS: Clinical data of the two siblings was collected and analyzed. Genomic DNA was extracted from peripheral venous blood samples from the patients and their parents. All exons and their flanking sequences of the AGL gene were subjected to PCR amplification and Sanger sequencing. Suspected mutation was verified in 75 healthy controls. RESULTS: The main clinical features of the two siblings included hypoglycemia and hepatomegaly, along with markedly elevated liver and myocardial enzymes...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28770335/erythritol-reduces-small-intestinal-glucose-absorption-increases-muscle-glucose-uptake-improves-glucose-metabolic-enzymes-activities-and-increases-expression-of-glut-4-and-irs-1-in-type-2-diabetic-rats
#15
Chika Ifeanyi Chukwuma, Ramgopal Mopuri, Savania Nagiah, Anil Amichund Chuturgoon, Md Shahidul Islam
PURPOSE: Studies have reported that erythritol, a low or non-glycemic sugar alcohol possesses anti-hyperglycemic and anti-diabetic potentials but the underlying mode of actions is not clear. This study investigated the underlying mode of actions behind the anti-hyperglycemic and anti-diabetic potentials of erythritol using different experimental models (experiment 1, 2 and 3). METHODS: Experiment 1 examined the effects of increasing concentrations (2.5-20%) of erythritol on glucose absorption and uptake in isolated rat jejunum and psoas muscle, respectively...
August 2, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28763149/three-cases-of-multi-generational-pompe-disease-are-current-practices-missing-diagnostic-and-treatment-opportunities
#16
Paul McIntosh, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil, Priya S Kishnani
Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband...
August 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28745633/determination-of-the-glycogen-content-in-cyanobacteria
#17
Alice De Porcellinis, Niels-Ulrik Frigaard, Yumiko Sakuragi
Cyanobacteria accumulate glycogen as a major intracellular carbon and energy storage during photosynthesis. Recent developments in research have highlighted complex mechanisms of glycogen metabolism, including the diel cycle of biosynthesis and catabolism, redox regulation, and the involvement of non-coding RNA. At the same time, efforts are being made to redirect carbon from glycogen to desirable products in genetically engineered cyanobacteria to enhance product yields. Several methods are used to determine the glycogen contents in cyanobacteria, with variable accuracies and technical complexities...
July 17, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28740077/footprint-free-human-fetal-foreskin-derived-ipscs-a-tool-for-modeling-hepatogenesis-associated-gene-regulatory-networks
#18
Peggy Matz, Wasco Wruck, Beatrix Fauler, Diran Herebian, Thorsten Mielke, James Adjaye
Induced pluripotent stem cells (iPSCs) are similar to embryonic stem cells and can be generated from somatic cells. We have generated episomal plasmid-based and integration-free iPSCs (E-iPSCs) from human fetal foreskin fibroblast cells (HFF1). We used an E-iPSC-line to model hepatogenesis in vitro. The HLCs were characterized biochemically, i.e. glycogen storage, ICG uptake and release, UREA and bile acid production, as well as CYP3A4 activity. Ultra-structure analysis by electron microscopy revealed the presence of lipid and glycogen storage, tight junctions and bile canaliculi- all typical features of hepatocytes...
July 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28737584/update-on-new-muscle-glycogenosis
#19
Pascal Laforêt, Edoardo Malfatti, John Vissing
PURPOSE OF REVIEW: The field of muscle glycogenoses has progressed in recent years by the identification of new disorders, and by reaching a better understanding of pathophysiology of the disorders and the physiology of glycogen metabolism. RECENT FINDINGS: In this review, we describe the clinical and pathological features of the three most recently described muscle glycogenoses caused by recessive mutations in GYG1, RBCK1 and PGM1. The three involved enzymes play different roles in glycogen metabolism...
October 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28727166/hepatocytes-contribute-to-residual-glucose-production-in-a-mouse-model-for-glycogen-storage-disease-type-ia
#20
Brenda S Hijmans, Andreas Boss, Theo H van Dijk, Maud Soty, Henk Wolters, Elodie Mutel, Albert K Groen, Terry G J Derks, Gilles Mithieux, Arend Heerschap, Dirk-Jan Reijngoud, Fabienne Rajas, Maaike H Oosterveer
It is a longstanding enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production (EGP) despite the loss of glucose-6-phosphatase (G6Pase) activity. Insight into the source of residual EGP is of clinical importance given the risk of sudden death in these patients, but so far contradictory mechanisms have been proposed. We investigated G6Pase-independent EGP in hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc(-/-) mice), and performed real-time analysis of hepatic glucose fluxes and glycogen metabolism in L-G6pc(-/-) mice using state-of-the-art stable isotope methodologies...
July 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
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