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Glycogen storage

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https://www.readbyqxmd.com/read/28102838/autophagy-dysregulation-in-danon-disease
#1
Anna Chiara Nascimbeni, Marina Fanin, Corrado Angelini, Marco Sandri
The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) are due to primary lysosomal protein defects. DD is characterized by mutations in the lysosome-associated membrane protein 2 (LAMP2) gene. The DD mouse model suggests that inefficient lysosome biogenesis/maturation and impairment of autophagosome-lysosome fusion contribute to the pathogenesis of muscle wasting...
January 19, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28100512/postexercise-repletion-of-muscle-energy-stores-with-fructose-or-glucose-in-mixed-meals
#2
Robin Rosset, Virgile Lecoultre, Léonie Egli, Jérémy Cros, Ayse Sila Dokumaci, Karin Zwygart, Chris Boesch, Roland Kreis, Philippe Schneiter, Luc Tappy
BACKGROUND: Postexercise nutrition is paramount to the restoration of muscle energy stores by providing carbohydrate and fat as precursors of glycogen and intramyocellular lipid (IMCL) synthesis. Compared with glucose, fructose ingestion results in lower postprandial glucose and higher lactate and triglyceride concentrations. We hypothesized that these differences in substrate concentration would be associated with a different partition of energy stored as IMCLs or glycogen postexercise...
January 18, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28096054/glycogen-storage-disease-type-ia-mice-with-less-than-2-of-normal-hepatic-glucose-6-phosphatase-%C3%AE-activity-restored-are-at-risk-of-developing-hepatic-tumors
#3
Goo-Young Kim, Young Mok Lee, Joon Hyun Kwon, Jun-Ho Cho, Chi-Jiunn Pan, Matthew F Starost, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia), characterized by impaired glucose homeostasis and chronic risk of hepatocellular adenoma (HCA) and carcinoma (HCC), is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC). We have previously shown that G6pc-/- mice receiving gene transfer mediated by rAAV-G6PC, a recombinant adeno-associated virus (rAAV) vector expressing G6Pase-α, and expressing 3-63% of normal hepatic G6Pase-α activity maintain glucose homeostasis and do not develop HCA/HCC. However, the threshold of hepatic G6Pase-α activity required to prevent tumor formation remained unknown...
January 10, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#4
Alexander V Skurat, Dyann Segvich, Anna A DePaoli-Roach, Peter J Roach
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly involved in synthesis and degradation of the polymer leading to a variety of glycogen storage diseases (GSDs). Microscopic visualization of glycogen deposits in cells and tissues is important for the study of normal glycogen metabolism as well as diagnosis of GSDs...
January 10, 2017: Glycobiology
https://www.readbyqxmd.com/read/28068143/adaptations-to-excess-choline-in-insulin-resistant-and-pcyt2-deficient-skeletal-muscle
#5
Adrian Taylor, Laila Cigana Schenkel, Maiya Yokich, Marica Bakovic
It was hypothesized that choline supplementation in insulin resistant (IR) CTP:phosphoethanolamine cytidylyltransferase deficient (Pcyt2(+/-)) mice would ameliorate muscle function by remodeling glucose and fatty acid (FA) metabolism. Pcyt2(+/-) mice either received no treatment or were allowed access to 2 mg/mL choline in drinking water for 4 weeks. Skeletal muscle was harvested from choline treated and untreated mice. Lipid analysis and metabolic gene expression and signaling pathways were compared between untreated Pcyt2(+/-) mice, treated Pcyt2(+/-) mice, and Pcyt2(+/+) mice...
September 6, 2016: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28061324/oral-corticosterone-administration-reduces-insulitis-but-promotes-insulin-resistance-and-hyperglycemia-in-male-nonobese-diabetic-mice
#6
Susan J Burke, Heidi M Batdorf, Adrianna E Eder, Michael D Karlstad, David H Burk, Robert C Noland, Z Elizabeth Floyd, J Jason Collier
Steroid-induced diabetes is the most common form of drug-induced hyperglycemia. Therefore, metabolic and immunological alterations associated with chronic oral corticosterone were investigated using male nonobese diabetic mice. Three weeks after corticosterone delivery, there was reduced sensitivity to insulin action measured by insulin tolerance test. Body composition measurements revealed increased fat mass and decreased lean mass. Overt hyperglycemia (>250 mg/dL) manifested 6 weeks after the start of glucocorticoid administration, whereas 100% of the mice receiving the vehicle control remained normoglycemic...
January 4, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28057574/a-proteomic-approach-to-identify-metalloproteins-and-metal-binding-proteins-in-liver-from-diabetic-rats
#7
Camila Pereira Braga, José Cavalcante Souza Vieira, Ryan A Grove, Cory H T Boone, Aline de Lima Leite, Marília Afonso Rabelo Buzalaf, Ana Angélica Henrique Fernandes, Jiri Adamec, Pedro de Magalhaes Padilha
Proteins play crucial roles in biological systems, thus studies comparing the protein pattern present in a healthy sample with an affected sample have been widely used for disease biomarker discovery. Although proteins containing metal ions constitute only a small proportion of the proteome, they are essential in a multitude of structural and functional processes. The correct association between metal ions and proteins is essential because this binding can significantly interfere with normal protein function...
January 3, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28056498/bone-marrow-stem-cell-therapy-partially-ameliorates-pathological-consequences-in-livers-of-mice-expressing-mutant-human-%C3%AE-1-antitrypsin
#8
Prakash Baligar, Veena Kochat, Shailendra K Arindkar, Zaffar Equbal, Snehashish Mukherjee, Swati Patel, Perumal Nagarajan, Sujata Mohanty, Jeffrey H Teckman, Asok Mukhopadhyay
: Alpha1-antitrypsin deficiency (AATD) is a genetic disease, caused by mutation of the AAT gene. Accumulation of mutated AAT protein aggregates in hepatocytes leads to endoplasmic reticulum (ER) stress resulting in impairment of liver functions and in some cases hepatocellular carcinoma, whereas decline of AAT levels in sera is responsible for pulmonary emphysema. In critical cases of liver ailments, the only option for treatment is liver transplantation, whereas AAT replacement therapy is followed in case of emphysema...
January 5, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28056069/engineering-potato-starch-with-a-higher-phosphate-content
#9
Xuan Xu, Xing-Feng Huang, Richard G F Visser, Luisa M Trindade
Phosphate esters are responsible for valuable and unique functionalities of starch for industrial applications. Also in the cell phosphate esters play a role in starch metabolism, which so far has not been well characterized in storage starch. Laforin, a human enzyme composed of a carbohydrate-binding module and a dual-specificity phosphatase domain, is involved in the dephosphorylation of glycogen. To modify phosphate content and better understand starch (de)phosphorylation in storage starch, laforin was engineered and introduced into potato (cultivar Kardal)...
2017: PloS One
https://www.readbyqxmd.com/read/28050927/energy-intake-and-expenditure-of-professional-soccer-players-of-the-english-premier-league-evidence-of-carbohydrate-periodization
#10
Liam Anderson, Patrick Orme, Robert J Naughton, Graeme L Close, Jordan Milsom, David Rydings, Andy O'Boyle, Rocco Di Michele, Julien Louis, Catherine Hambley, John Roger Speakman, Ryland Morgans, Barry Drust, James P Morton
In an attempt to better identify and inform the energy requirements of elite soccer players, we quantified the energy expenditure (EE) of players from the English Premier League (n=6) via the doubly labeled water method (DLW) over a 7-day in-season period. Energy intake (EI) was also assessed using food diaries, supported by the remote food photographic method and 24 h recalls. The 7-day period consisted of 5 training days (TD) and 2 match days (MD). Although mean daily EI (3186 ± 367 kcals) was not different from (P>0...
January 4, 2017: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/28050582/data-on-the-phosphorylation-state-of-the-catalytic-serine-of-enzymes-in-the-%C3%AE-d-phosphohexomutase-superfamily
#11
Yingying Lee, Cristina Furdui, Lesa J Beamer
Most enzymes in the α-D-phosphohexomutase superfamily catalyze the reversible conversion of 1- to 6-phosphosugars. They play important roles in carbohydrate and sugar nucleotide metabolism, and participate in the biosynthesis of polysaccharides, glycolipids, and other exoproducts. Mutations in genes encoding these enzymes are associated with inherited metabolic diseases in humans, including glycogen storage disease and congenital disorders of glycosylation. Enzymes in the superfamily share a highly conserved active site serine that participates in the multi-step phosphoryl transfer reaction...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28045567/disruption-of-the-gaa-gene-in-zebrafish-fails-to-generate-the-phenotype-of-classical-pompe-disease
#12
Jing Wu, Yi Yang, Chengjun Sun, Shaoyang Sun, Qiang Li, Yuxiao Yao, Fei Fei, Lingeng Lu, Zhuo Chang, Wenting Zhang, Xu Wang, Feihong Luo
The underlying pathogenic lesions of glycogen storage disease type II (GSD II) and the diversity of this disease among different species are still under exploration. Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II and examined the sequential pathogenic changes. gaa mRNA and protein expression, enzymatic activity, and lysosomal glycogen accumulation were assessed, and the phenotypic changes were compared between wild-type (WT) and gaa-mutated zebrafish. The presence of a Δ13 frameshift mutation in the gaa gene was confirmed at both the DNA and transcribed mRNA levels by Sanger sequencing...
January 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28032299/new-mutations-and-genotype-phenotype-correlation-in-late-onset-pompe-patients
#13
Can Ebru Bekircan-Kurt, Hafize Nalan Güneş, F Gokcem Yildiz, Esen Saka, Ersin Tan, Sevim Erdem-Özdamar
Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two...
December 28, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28012908/flux-balance-analysis-of-photoautotrophic-metabolism-uncovering-new-biological-details-of-subsystems-involved-in-cyanobacterial-photosynthesis
#14
Xiao Qian, Min Kyung Kim, G Kenchappa Kumaraswamy, Ananya Agarwal, Desmond S Lun, G Charles Dismukes
We have constructed and experimentally tested a comprehensive genome-scale model of photoautotrophic growth, denoted iSyp821, for the cyanobacterium Synechococcus sp. PCC 7002. iSyp821 incorporates a variable biomass objective function (vBOF), in which stoichiometries of the major biomass components vary according to light intensity. The vBOF was constrained to fit the measured cellular carbohydrate/protein content under different light intensities. iSyp821 provides rigorous agreement with experimentally measured cell growth rates and inorganic carbon uptake rates as a function of light intensity...
December 21, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28009297/integrative-analysis-of-prkag2-cardiomyopathy-ips-and-microtissue-models-identifies-ampk-as-a-regulator-of-metabolism-survival-and-fibrosis
#15
J Travis Hinson, Anant Chopra, Andre Lowe, Calvin C Sheng, Rajat M Gupta, Rajarajan Kuppusamy, John O'Sullivan, Glenn Rowe, Hiroko Wakimoto, Joshua Gorham, Kehan Zhang, Kiran Musunuru, Robert E Gerszten, Sean M Wu, Christopher S Chen, Jonathan G Seidman, Christine E Seidman
AMP-activated protein kinase (AMPK) is a metabolic enzyme that can be activated by nutrient stress or genetic mutations. Missense mutations in the regulatory subunit, PRKAG2, activate AMPK and cause left ventricular hypertrophy, glycogen accumulation, and ventricular pre-excitation. Using human iPS cell models combined with three-dimensional cardiac microtissues, we show that activating PRKAG2 mutations increase microtissue twitch force by enhancing myocyte survival. Integrating RNA sequencing with metabolomics, PRKAG2 mutations that activate AMPK remodeled global metabolism by regulating RNA transcripts to favor glycogen storage and oxidative metabolism instead of glycolysis...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/28003125/identification-of-a-novel-starch-synthase-iii-from-the-picoalgae-ostreococcus-tauri
#16
Julieta Barchiesi, Nicolás Hedin, Alberto A Iglesias, Diego F Gomez-Casati, Miguel A Ballicora, María V Busi
Hydrosoluble glycogen is the major energy storage compound in bacteria, archaea, fungi, and animal cells. In contrast, photosynthetic eukaryotes have evolved to build a highly organized semicrystalline granule of starch. Several enzymes are involved in polysaccharide synthesis, among which glycogen or starch synthase catalyze the elongation of the α-1,4-glucan chain. Ostreococcus tauri, accumulates a single starch granule and contains three starch synthase III (SSIII) isoforms, known as OsttaSSIII-A, OsttaSSIII-B and OsttaSSIII-C...
December 18, 2016: Biochimie
https://www.readbyqxmd.com/read/27974893/recoverable-record-high-lactic-acidosis-in-a-patient-with-glycogen-storage-disease-type-1-a-mixed-type-a-and-type-b-lactate-disorder
#17
Yonatan Oster, Isaiah D Wexler, Samuel N Heyman, Elchanan Fried
A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27958319/altered-dna-methylation-associated-with-an-abnormal-liver-phenotype-in-a-cattle-model-with-a-high-incidence-of-perinatal-pathologies
#18
Hélène Kiefer, Luc Jouneau, Évelyne Campion, Delphine Rousseau-Ralliard, Thibaut Larcher, Marie-Laure Martin-Magniette, Sandrine Balzergue, Mireille Ledevin, Audrey Prézelin, Pascale Chavatte-Palmer, Yvan Heyman, Christophe Richard, Daniel Le Bourhis, Jean-Paul Renard, Hélène Jammes
Cloning enables the generation of both clinically normal and pathological individuals from the same donor cells, and may therefore be a DNA sequence-independent driver of phenotypic variability. We took advantage of cattle clones with identical genotypes but different developmental abilities to investigate the role of epigenetic factors in perinatal mortality, a complex trait with increasing prevalence in dairy cattle. We studied livers from pathological clones dying during the perinatal period, clinically normal adult clones with the same genotypes as perinatal clones and conventional age-matched controls...
December 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27941074/cartilage-rings-contribute-to-the-proper-embryonic-tracheal-epithelial-differentiation-metabolism-and-expression-of-inflammatory-genes
#19
Gianluca Turcatel, Katelyn Millette, Matthew Thornton, Stephanie Leguizamon, Brendan Grubbs, Wei Shi, David Warburton
The signaling crosstalk between the tracheal mesenchyme and epithelium has not been researched extensively leaving a substantial gap of knowledge in the mechanisms dictating embryonic development of the proximal airways by the adjacent mesenchyme. Recently, we have reported that embryos lacking mesenchymal expression of Sox9 did not develop tracheal cartilage rings and showed altered differentiation of the tracheal epithelium. Herein, we propose that tracheal cartilage provides local inductive signals responsible for the proper differentiation, metabolism, and inflammatory status regulation of the tracheal epithelium...
December 9, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27931223/pattern-and-prognostic-value-of-cardiac-involvement-in-patients-with-late-onset-pompe-disease-a-comprehensive-cardiovascular-magnetic-resonance-approach
#20
Matthias Boentert, Anca Florian, Bianca Dräger, Peter Young, Ali Yilmaz
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α-1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure. While the early infantile-onset form is characterized by early severe hypertrophic cardiomyopathy with cardiac and respiratory failure, clinically relevant cardiomyopathy seems to be uncommon in patients with late-onset Pompe disease, and the prevalence and nature of myocardial abnormalities are still to be clarified...
December 7, 2016: Journal of Cardiovascular Magnetic Resonance
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