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Glycogen storage

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https://www.readbyqxmd.com/read/29143313/polyglucosan-myopathy-and-functional-characterization-of-a-novel-gyg1-mutation
#1
C Hedberg-Oldfors, A Mensch, K Visuttijai, G Stoltenburg, D Stoevesandt, T Kraya, A Oldfors, S Zierz
OBJECTIVES: Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of abnormally structured glycogen in muscle in addition to exercise intolerance or muscle weakness. In this study, we investigated the etiology and pathogenesis of a late-onset myopathy associated with glycogenin-1 deficiency. MATERIALS AND METHODS: A family with two affected siblings, 64- and 66-year-olds, was studied...
November 15, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29134977/metformin-effects-are-augmented-by-chronic-intermittent-cold-stress-in-high-fat-diet-fed-male-wistar-rats
#2
A O Ige, O I Iwaloye, E O Adewoye
This study investigated the effects of metformin on some glucose regulatory indices in high fat diet (HFD) fedmale Wistar rats exposed to room temperature and chronic intermittent cold stress (CICS). Thirty rats were randomly dividedinto 5 groups. Group 1(control) was maintained on standard rat chow while groups 2-5 were maintained on HFD for 8weeksrespectively prior to experimental procedures. Control, group 2(HFD untreated) and group 3(HFD+metformin (250mg/kg)were exposed to room temperature while groups 4(HFD untreated+CICS) and 5(HFD+CICS+metformin) were exposed toCICS for 21days...
June 30, 2017: Nigerian Journal of Physiological Sciences: Official Publication of the Physiological Society of Nigeria
https://www.readbyqxmd.com/read/29130078/hepatic-adaptations-to-a-high-fat-diet-in-the-mrl-mouse-strain-are-associated-with-an-inefficient-oxidative-phosphorylation-system
#3
Ahlke Heydemann, Magdalis González-Vega, Tirsit K Berhanu, Aaron J Mull, Ragav Sharma, Jenan Holley-Cuthrell
The MRL mice are resistant to a 12-week high fat diet (HFD) feeding protocol, with the proximal cause being an increased basal pAMPK(T172) expression in the skeletal muscle. Here, we test if this lack of pathology extends to the liver at both the tissue and cellular levels and its correlation to pAMPK(T172) levels. MRL and B6 mice were subjected to 12 weeks of diet intervention and tissues were either fixed for histology or snap-frozen for further processing (n= 3-6, per group). The HFD MRL mice remain insulin and glucose sensitive after 12 weeks of HFD...
December 2016: Jacobs J Diabetes Endocrinol
https://www.readbyqxmd.com/read/29127952/diabetes-mellitus-in-a-patient-with-glycogen-storage-disease-type-ia-a-case-report
#4
Aviva Cohn, Anupam Ohri
BACKGROUND: Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. CASE PRESENTATION: We describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult...
November 12, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29119402/a-third-case-of-glycogen-storage-disease-ib-and-giant-cell-tumour-of-the-mandible-a-disease-association-or%C3%A2-iatrogenic-complication-of-therapy
#5
Raajiv Prasad, Jane Estrella, John Christodoulou, Geoffrey McKellar, Michel C Tchan
We report the third case of Glycogen Storage Disease type 1b (GSD 1b) with Giant Cell Tumour (GCT) of the mandible, associated with Granulocyte Colony Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12 years old at GCT diagnosis and had been treated with G-CSF from 5 years of age. He underwent therapy with interferon followed by local resection which was successful in initial control of the disease...
November 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29118420/aav-mediated-transcription-factor-eb-tfeb-gene-delivery-ameliorates-muscle-pathology-and-function-in-the-murine-model-of-pompe-disease
#6
Francesca Gatto, Barbara Rossi, Antonietta Tarallo, Elena Polishchuk, Roman Polishchuk, Alessandra Carrella, Edoardo Nusco, Filomena Grazia Alvino, Francesca Iacobellis, Elvira De Leonibus, Alberto Auricchio, Graciana Diez-Roux, Andrea Ballabio, Giancarlo Parenti
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy. We previously showed that modulation of autophagy and lysosomal exocytosis by overexpression of the transcription factor EB (TFEB) gene was effective in improving muscle pathology in PD mice injected intramuscularly with an AAV-TFEB vector. Here we have evaluated the effects of TFEB systemic delivery on muscle pathology and on functional performance, a primary measure of efficacy in a disorder like PD...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112863/the-liver
#7
Elijah Trefts, Maureen Gannon, David H Wasserman
The liver is a critical hub for numerous physiological processes. These include macronutrient metabolism, blood volume regulation, immune system support, endocrine control of growth signaling pathways, lipid and cholesterol homeostasis, and the breakdown of xenobiotic compounds, including many current drugs. Processing, partitioning, and metabolism of macronutrients provide the energy needed to drive the aforementioned processes and are therefore among the liver's most critical functions. Moreover, the liver's capacities to store glucose in the form of glycogen, with feeding, and assemble glucose via the gluconeogenic pathway, in response to fasting, are critical...
November 6, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29109032/molecular-mechanisms-of-cardiac-pathology-in-diabetes-experimental-insights
#8
REVIEW
U Varma, P Koutsifeli, V L Benson, K M Mellor, L M D Delbridge
Diabetic cardiomyopathy is a distinct pathology independent of co-morbidities such as coronary artery disease and hypertension. Diminished glucose uptake due to impaired insulin signaling and decreased expression of glucose transporters is associated with a shift towards increased reliance on fatty acid oxidation and reduced cardiac efficiency in diabetic hearts. The cardiac metabolic profile in diabetes is influenced by disturbances in circulating glucose, insulin and fatty acids, and alterations in cardiomyocyte signaling...
November 3, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29108631/mesenchymal-stromal-cells-isolated-from-gestationally-diabetic-human-placenta-exhibit-insulin-resistance-decreased-clonogenicity-and-angiogenesis
#9
Suja Ann Mathew, Ramesh Bhonde
Pregnancy is known to be a diabetogenic state. With sedentary lifestyle and wrong dietary choices, gestational diabetes mellitus is on the rise. This raises a concern as placenta is becoming an acceptable choice, as a source of Mesenchymal Stromal Cells (MSCs). In our current study we questioned whether there exists a difference between MSCs isolated from normal and diabetic (Gd-P-MSCs) placenta, as the health of the cells used in therapy is of prime importance. We isolated and verified the Gd-P-MSCs based on their surface markers and differentiation potential...
November 2017: Placenta
https://www.readbyqxmd.com/read/29107910/polyhydroxyalkanoates-pha-production-from-fermented-crude-glycerol-study-on-the-conversion-of-1-3-propanediol-to-pha-in-mixed-microbial-consortia
#10
Anna Burniol-Figols, Cristiano Varrone, Anders Egede Daugaard, Simone Balzer Le, Ioannis V Skiadas, Hariklia N Gavala
Crude glycerol, a by-product from the biodiesel industry, can be converted by mixed microbial consortia into 1,3-propanediol (1,3-PDO) and volatile fatty acids. In this study, further conversion of these main products into polyhydroxyalkanoates (PHA) was investigated with the focus on 1,3-PDO. Two different approaches for the enrichment of PHA accumulating microbial consortia using an aerobic dynamic feeding strategy were applied. With the first approach, where nitrogen was present during the whole cycle, no net production of PHA from 1,3-PDO was observed in the fermented effluent, not even in a nitrogen-limited PHA accumulation assay...
October 23, 2017: Water Research
https://www.readbyqxmd.com/read/29106945/activation-of-the-sting-irf3-pathway-promotes-hepatocyte-inflammation-apoptosis-and-induces-metabolic-disorders-in-nonalcoholic-fatty-liver-disease
#11
J T Qiao, C Cui, L Qing, L S Wang, T Y He, F Yan, F Q Liu, Y H Shen, X G Hou, L Chen
BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is a common result of obesity and metabolic syndrome. Hepatocyte injury and metabolic disorders are hallmarks of NAFLD. Stimulator of interferon genes (STING) and its downstream factor interferon regulatory factor 3 (IRF3) trigger inflammatory reaction in response to the presence of cytosolic DNA. STING has recently been shown to play an important role in early alcoholic liver disease. However, little is known about the role of STING-IRF3 pathway in hepatocyte injury...
October 26, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29089432/the-csr-system-regulates-escherichia-coli-fitness-by-controlling-glycogen-accumulation-and-energy-levels
#12
Manon Morin, Delphine Ropers, Eugenio Cinquemani, Jean-Charles Portais, Brice Enjalbert, Muriel Cocaign-Bousquet
In the bacterium Escherichia coli, the posttranscriptional regulatory system Csr was postulated to influence the transition from glycolysis to gluconeogenesis. Here, we explored the role of the Csr system in the glucose-acetate transition as a model of the glycolysis-to-gluconeogenesis switch. Mutations in the Csr system influence the reorganization of gene expression after glucose exhaustion and disturb the timing of acetate reconsumption after glucose exhaustion. Analysis of metabolite concentrations during the transition revealed that the Csr system has a major effect on the energy levels of the cells after glucose exhaustion...
October 31, 2017: MBio
https://www.readbyqxmd.com/read/29080241/next-generation-sequencing-in-pediatric-hepatology-and-liver-transplantation
#13
REVIEW
Emanuele Nicastro, Lorenzo D'Antiga
Next Generation Sequencing (NGS) has revolutionized the analysis of human genetic variations, offering a highly cost-effective way to diagnose monogenic diseases (MDs). Since nearly half of children with chronic liver disorders have a genetic cause and approximately 20% of pediatric liver transplants are performed in children with MDs, NGS offers the opportunity to significantly improve the diagnostic yield in this field. Among the NGS strategies, the use of targeted gene panels has proven useful to rapidly and reliably confirm a clinical suspicion, whereas the whole exome sequencing (WES) with variants filtering has been adopted to assist the diagnostic work up in unclear clinical scenarios...
October 28, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/29076603/astrocyte-glycogen-and-lactate-new-insights-into-learning-and-memory-mechanisms
#14
Cristina M Alberini, Emmanuel Cruz, Giannina Descalzi, Benjamin Bessières, Virginia Gao
Memory, the ability to retain learned information, is necessary for survival. Thus far, molecular and cellular investigations of memory formation and storage have mainly focused on neuronal mechanisms. In addition to neurons, however, the brain comprises other types of cells and systems, including glia and vasculature. Accordingly, recent experimental work has begun to ask questions about the roles of non-neuronal cells in memory formation. These studies provide evidence that all types of glial cells (astrocytes, oligodendrocytes, and microglia) make important contributions to the processing of encoded information and storing memories...
October 27, 2017: Glia
https://www.readbyqxmd.com/read/29076373/clinical-characteristics-and-muscle-glycogen-concentrations-in-warmblood-horses-with-polysaccharide-storage-myopathy
#15
Susannah S Lewis, Anne M Nicholson, Zoë J Williams, Stephanie J Valberg
OBJECTIVE To characterize clinical findings for polysaccharide storage myopathy (PSSM) in warmblood horses with type 1 PSSM (PSSM1; caused by mutation of the glycogen synthase 1 gene) and type 2 PSSM (PSSM2; unknown etiology). SAMPLE Database with 3,615 clinical muscle biopsy submissions. PROCEDURES Reported clinical signs and serum creatine kinase (CK) and aspartate aminotransferase (AST) activities were retrospectively analyzed for horses with PSSM1 (16 warmblood and 430 nonwarmblood), horses with PSSM2 (188 warmblood and 646 nonwarmblood), and warmblood horses without PSSM (278)...
November 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/29061980/structure-of-human-lysosomal-acid-%C3%AE-glucosidase-a-guide-for-the-treatment-of-pompe-disease
#16
Véronique Roig-Zamboni, Beatrice Cobucci-Ponzano, Roberta Iacono, Maria Carmina Ferrara, Stanley Germany, Yves Bourne, Giancarlo Parenti, Marco Moracci, Gerlind Sulzenbacher
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing mutations in the gaa gene have been reported, but the structural effects of the pathological variants were unknown. Here we present the high-resolution crystal structures of recombinant human GAA (rhGAA), the standard care of Pompe disease...
October 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/29061122/metabolic-differentiation-of-surface-and-invasive-cells-of-yeast-colony-biofilms-revealed-by-gene-expression-profiling
#17
Jana Maršíková, Derek Wilkinson, Otakar Hlaváček, Gregor D Gilfillan, Alexandru Mizeranschi, Timothy Hughes, Markéta Begany, Stanislava Rešetárová, Libuše Váchová, Zdena Palková
BACKGROUND: Yeast infections are often connected with formation of biofilms that are extremely difficult to eradicate. An excellent model system for deciphering multifactorial determinants of yeast biofilm development is the colony biofilm, composed of surface ("aerial") and invasive ("root") cells. While surface cells have been partially analyzed before, we know little about invasive root cells. In particular, information on the metabolic, chemical and morphogenetic properties of invasive versus surface cells is lacking...
October 23, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29059712/selectivity-cell-permeability-and-oral-availability-studies-of-novel-bromophenol-derivative-hpn-as-ptp1b-inhibitor
#18
Jiao Luo, Qi Xu, Bo Jiang, Renshuai Zhang, Xiaoling Jia, Xiangqian Li, Lijun Wang, Chuanlong Guo, Ning Wu, Dayong Shi
BACKGROUND AND PURPOSE: Protein tyrosine phosphatase 1B (PTP1B) negatively regulates insulin signaling by tyrosine dephosphorylation of insulin receptor. It is a highly validated target for type 2 diabetes therapeutics. Here, the anti-diabetic effects of HPN were evaluated in the diabetic BKS db mice. EXPERIMENTAL APPROACH: The inhibitory mode of PTP1B was determined according to the Lineweaver-Burk plot in the presence of HPN. Surface plasmon resonance (SPR) assay and molecular docking were used to study the interaction between HPN and PTP1B...
October 23, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29057245/a-case-report-of-congenital-glycogen-storage-liver-cirrhosis-treated-with-bone-marrow-derived-stem-cells
#19
Terek W Wehbe, Nassim H Abi Chahine, Abdul-Rahman A Annous, Mohammad A Ferri, Robert C Boulous, Majid F El-Mestrah
Liver cirrhosis represents a state of end-stage failure that is usually fatal. The condition results in liver dysfunction, recurrent ascites, encephalopathy, renal failure, splenomegaly, bleeding, and a poor quality of life in general. With the current severe shortage of donated organs, the only available treatment in the developing countries remains palliative care. We report a case of congenital metabolic liver cirrhosis due to glycogen storage disease diagnosed at age eight. The patient, a male, received bone marrow derived mononuclear cells (BMMC) at age 16 and again at age 17 with significant improvement of his biochemical liver function tests, ascites build-up, asthenia, splenomegaly and quality of life...
2017: Stem Cell Investigation
https://www.readbyqxmd.com/read/29046207/-clinical-characteristics-and-gaa-gene-mutation-in-children-with-glycogen-storage-disease-type-ii-an-analysis-of-3-cases
#20
Shan Yuan, Jie Jiang, Lu-Ting Zha, Zuo-Cheng Yang
Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD II confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case was classified as infantile-onset GSD II, and two cases as late-onset GSD II. The infantile-onset patient (aged 4 months) showed no weight increase and had dyspnea, muscle hypotonia, and increased alanine aminotransferase and creatine kinase; echocardiography showed hypertrophic cardiomyopathy...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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