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Glycogen storage

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https://www.readbyqxmd.com/read/27900094/malignant-transformation-of-hepatocellular-adenoma-with-bone-marrow-metaplasia-arising-in-glycogen-storage-disease-type-i-a-case-report
#1
Tomohiro Iguchi, Motoyuki Yamagata, Takashi Sonoda, Kimihiko Yanagita, Tetsuhiro Fukahori, Eiji Tsujita, Shinichi Aishima, Yoshinao Oda, Yoshihiko Maehara
Malignant transformation of hepatocellular adenoma (HA) is relatively rare and has been reported to be associated with dysregulation of the β-catenin pathway. The presence of bone marrow metaplasia in HA is an uncommon histological characteristic. The current report presents the case of a 46-year-old woman with glycogen storage disease type I (von Gierke's disease) who underwent resection of hepatocellular carcinoma (HCC) arising in a HA with associated bone marrow metaplasia producing three series of hematopoietic cells...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#2
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#3
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27888103/luteolin-improves-non-alcoholic-fatty-liver-disease-in-db-db-mice-by-inhibition-of-liver-x-receptor-activation-to-down-regulate-expression-of-sterol-regulatory-element-binding-protein-1c
#4
Ye Yin, Lu Gao, Haiyan Lin, Yue Wu, Xiao Han, Yunxia Zhu, Jie Li
In this study, we report that daily administration of luteolin for 8 weeks improved hepatic steatosis by repressing hepatic TG accumulation and increasing glycogen storage. Luteolin inhibited hepatic de novo lipid synthesis by regulating the LXR-SREBP-1c signaling pathway, which is over-activated in the livers of db/db mice. Further in vitro studies revealed that luteolin can competitively bind to the ligand binding domain to suppress the LXR activation induced by an LXR agonist and high glucose, thereby decreasing TG accumulation in HepG2 cells and primary hepatocytes...
November 22, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27864142/glycogen-storage-disease-type-ib-neutrophils-exhibit-impaired-cell-adhesion-and-migration
#5
Goo-Young Kim, Young Mok Lee, Joon Hyun Kwon, Hyun Sik Jun, Janice Chou
Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is an inherited autosomal recessive disorder caused by a deficiency in the glucose-6-phosphate transporter (G6PT). Neutrophils play an essential role in the defense against invading pathogens. The recruitment of neutrophils towards the inflammation sites in response to inflammatory stimuli is a tightly regulated process involving rolling, adhesion, and transmigration. In this study, we investigated the role of G6PT in neutrophil adhesion and migration using in vivo and in vitro models...
November 15, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27855487/transfer-of-therapeutic-genes-into-fetal-rhesus-monkeys-using-recombinant-adeno-associated-type-i-viral-vectors
#6
Thomas J Conlon, Cathryn S Mah, Christina A R Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, Charles C Lee, Alice F Tarantal, Barry J Byrne
Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa-/- mice resulted in high-level transduction of the diaphragm...
November 17, 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27835792/intermittent-fasting-reduces-body-fat-but-exacerbates-hepatic-insulin-resistance-in-young-rats-regardless-of-high-protein-and-fat-diets
#7
Sunmin Park, Kyung Min Yoo, Joo Suk Hyun, Suna Kang
Intermittent fasting (IMF) is a relatively new dietary approach to weight management, although the efficacy and adverse effects have not been full elucidated and the optimal diets for IMF are unknown. We tested the hypothesis that a one-meal-per-day intermittent fasting with high fat (HF) or protein (HP) diets can modify energy, lipid, and glucose metabolism in normal young male Sprague-Dawley rats with diet-induced obesity or overweight. Male rats aged 5 weeks received either HF (40% fat) or HP (26% protein) diets ad libitum (AL) or for 3 h at the beginning of the dark cycle (IMF) for 5 weeks...
October 15, 2016: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/27832700/systemic-correction-of-murine-glycogen-storage-disease-type-iv-by-an-aav-mediated-gene-therapy
#8
Haiqing Yi, Quan Zhang, Elizabeth D Brooks, Chunyu Yang, Beth L Thurberg, Priya S Kishnani, Baodong Sun
Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. We evaluate the efficacy of gene therapy with an adeno-associated viral (AAV) vector in a mouse model of adult form of GSD IV (<i>Gbe1<sup>ys/ys</sup></i>). An AAV serotype 9 (AAV9) vector containing a human GBE expression cassette (AAV-GBE) was intravenously injected into 14-day-old <i>Gbe1<sup>ys/ys</sup></i> mice at a dose of 5x10<sup>11</sup> vector genomes per mouse...
November 10, 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27816333/ischemic-stroke-due-to-hypoperfusion-in-a-patient-with-a-previously-unrecognized-danon-disease
#9
Marco Marino, Olimpia Musumeci, Giuseppe Paleologo, Maria Cucinotta, Alba Migliorato, Carmelo Rodolico, Antonio Toscano
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain. ECG showed Wolff-Parkinson-White syndrome; echocardiography revealed hypertrophic cardiomyopathy, and, shortly after, he experienced a cardiac arrest followed by an occipital ischemic stroke...
October 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27815211/ablation-of-ppp1r3g-reduces-glycogen-deposition-and-mitigates-high-fat-diet-induced-obesity
#10
Yongxian Zhang, Jin Gu, Lin Wang, Zilong Zhao, Yi Pan, Yan Chen
Glycogen and triglyceride are two major forms of energy storage in the body and provide the fuel during different phases of food deprivation. However, how glycogen metabolism is linked to fat deposition in adipose tissue has not been clearly characterized. We generated a mouse model with whole-body deletion of PPP1R3G, a glycogen-targeting subunit of protein phosphatase-1 required for glycogen synthesis. Upon feeding with high-fat diet, the body weight and fat composition are significantly reduced in the PPP1R3G(-/-) mice compared to the wild type controls...
November 2, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27814527/an-integrated-omic-analysis-of-hepatic-alteration-in-medaka-fish-chronically-exposed-to-cyanotoxins-with-possible-mechanisms-of-reproductive-toxicity
#11
Qin Qiao, Séverine Le Manach, Hélène Huet, Evelyne Duvernois-Berthet, Soraya Chaouch, Charlotte Duval, Benoit Sotton, Loïc Ponger, Arul Marie, Lucrèce Mathéron, Sarah Lennon, Gérard Bolbach, Chakib Djediat, Cécile Bernard, Marc Edery, Benjamin Marie
Cyanobacterial blooms threaten human health as well as the population of other living organisms in the aquatic environment, particularly due to the production of natural toxic components, the cyanotoxin. So far, the most studied cyanotoxins are microcystins (MCs). In this study, the hepatic alterations at histological, proteome and transcriptome levels were evaluated in female and male medaka fish chronically exposed to 1 and 5 μg L(-1) microcystin-LR (MC-LR) and to the extract of MC-producing Microcystis aeruginosa PCC 7820 (5 μg L(-1) of equivalent MC-LR) by balneation for 28 days, aiming at enhancing our understanding of the potential reproductive toxicity of cyanotoxins in aquatic vertebrate models...
October 26, 2016: Environmental Pollution
https://www.readbyqxmd.com/read/27811061/liver-p53-is-stabilized-upon-starvation-and-required-for-amino-acid-catabolism-and-gluconeogenesis
#12
Andreas Prokesch, Franziska A Graef, Tobias Madl, Jennifer Kahlhofer, Steffi Heidenreich, Anne Schumann, Elisabeth Moyschewitz, Petra Pristoynik, Astrid Blaschitz, Miriam Knauer, Matthias Muenzner, Juliane G Bogner-Strauss, Gottfried Dohr, Tim J Schulz, Michael Schupp
The ability to adapt cellular metabolism to nutrient availability is critical for survival. The liver plays a central role in the adaptation to starvation by switching from glucose-consuming processes and lipid synthesis to providing energy substrates like glucose to the organism. Here we report a previously unrecognized role of the tumor suppressor p53 in the physiologic adaptation to food withdrawal. We found that starvation robustly increases p53 protein in mouse liver. This induction was posttranscriptional and mediated by a hepatocyte-autonomous and AMP-activated protein kinase-dependent mechanism...
November 3, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27806790/-clinical-observation-on-human-alpha-glucosidase-in-treatment-of-five-patients-with-glycogen-storage-disease-%C3%A2
#13
L L Xu, L D Zhang, Y J Liang, W Tang, X Q Huang, Y X Pei, Y C Cheng, H M Huang, C Zhang
Objective: To evaluate the effect of enzyme replacement therapy (ERT) on glycogen storage disease typeⅡ(GSDⅡ). Method: The clinical data of three juvenile onset and two infant onset GSDⅡpatients were collected from First Affiliated Hospital of Sun Yat-sen University in October 2015 to July 2016.Patient 1 was female, the age of onset was 15 months. Patient 2 was male, the age of onset was 20 months. Patient 3 was female, the sister of patient 2, the age of onset was 47 months. Patient 4 was male, the age of onset was 5 months...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27796004/ultrastructural-studies-on-oocyte-development-and-vitellogenesis-associated-with-follicle-cells-in-female-scapharca-subcrenata-pelecypoda-arcidae-in-western-korea
#14
Sung Han Kim
Ultrastructural studies on oocyte development and vitellogenesis in oocytes, and the functions of follicle cells during oogenesis and oocyte degeneration were investigated to clarifyb the reproductive mechanism on vitellogenesis of Scapharca subcrenata using electron microscope observations. In this study, vitellogenesis during oogenesis in the oocytes occured by way of autosynthesis and heterosynthesis. Of two processes of vitellogenesis during oogenesis, the process of endogenous autosynthesis involved the combined activity of the Golgi complex, mitochondria and rough endoplasmic reticulum...
September 2016: Balsaeng'gwa Saengsig
https://www.readbyqxmd.com/read/27789774/post-exercise-muscle-glycogen-resynthesis-in-humans
#15
Louise M Burke, Luc J C van Loon, John A Hawley
Since the pioneering studies conducted in the 1960s in which glycogen status was investigated utilizing the muscle biopsy technique, sports scientists have developed a sophisticated appreciation of the role of glycogen in cellular adaptation and exercise performance, as well as sites of storage of this important metabolic fuel. While sports nutrition guidelines have evolved during the past decade to incorporate sport-specific and periodized manipulation of carbohydrate (CHO) availability, athletes attempt to maximise muscle glycogen synthesis between important workouts or competitive events so that fuel stores closely match to the demands of the prescribed exercise...
October 27, 2016: Journal of Applied Physiology
https://www.readbyqxmd.com/read/27784782/glucocorticoid-receptor-%C3%AE-induces-hepatic-steatosis-by-augmenting-inflammation-and-inhibition-of-the-peroxisome-proliferator-activated-receptor-ppar-%C3%AE
#16
Joseph S Marino, Lance A Stechschulte, David E Stec, Andrea Nestor-Kalinoski, Sydni Coleman, Terry D Hinds
Glucocorticoids (GCs) regulate energy supply in response to stress by increasing hepatic gluconeogenesis during fasting. Long-term GC treatment induces hepatic steatosis and weight gain. GC signaling is coordinated via the GC receptor (GR) GRα, as the GRβ isoform lacks a ligand-binding domain. The roles of the GR isoforms in the regulation of lipid accumulation is unknown. The purpose of this study was to determine whether GRβ inhibits the actions of GCs in the liver, or enhances hepatic lipid accumulation...
October 26, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27783320/lignans-rich-extract-from-herpetospermum-caudigerum-alleviate-physical-fatigue-in-mice
#17
Shi-Ying Jin, Rui-Sheng Li, Bao-de Shen, Jin-Xia Bai, Ping-Hua Xu, Ling Dai, He Xu, Shi-Xiao Jin, Jin Han, Hai-Long Yuan
OBJECTIVE: To ascertain anti-fatigue constituents and mechanisms of Herpetospermum caudigerum. METHODS: The 80% ethanol extracts of Herpetospermum caudigerum were partitioned with chloroform, ethyl acetate and n-butanol, respectively. Male Kunming mice were divided into 13 groups with 16 mice in each group: a control group fed with water, 9 groups treated with 3 fractions of Herpetospermum caudigerum (chloroform fraction, ethyl acetate fraction and n-butanol fraction) at dose of 80, 160 and 320 mg/kg for the low-dose group, medium-dose group and high-dose group, 3 herpetrione (HPE) treated groups fed with HPE at dose of 15, 30, and 60 mg/kg for the low-dose group, medium-dose group and high-dose group...
November 2016: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/27782369/the-structure-of-brain-glycogen-phosphorylase-from-allosteric-regulation-mechanisms-to-clinical-perspectives
#18
REVIEW
Cécile Mathieu, Jean-Marie Dupret, Fernando Rodrigues Lima
Glycogen phosphorylase (GP) is the key enzyme that regulates glycogen mobilization in cells. GP is a complex allosteric enzyme that comprises a family of three isozymes: muscle GP (mGP), liver GP (lGP), and brain GP (bGP). Although the three isozymes display high similarity and catalyze the same reaction, they differ in their sensitivity to the allosteric activator adenosine monophosphate (AMP). Moreover, inactivating mutations in mGP and lGP have been known to be associated with glycogen storage diseases (McArdle and Hers disease, respectively)...
October 26, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27747161/alglucosidase-alfa-treatment-alleviates-liver-disease-in-a-mouse-model-of-glycogen-storage-disease-type-iv
#19
Haiqing Yi, Fengqin Gao, Stephanie Austin, Priya S Kishnani, Baodong Sun
Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27745935/-insulin-edema-in-hepatic-glycogenosis
#20
T Mahévas, D Gobert, M Gatfossé, A Mekinian, O Fain
INTRODUCTION: Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. CASE REPORT: An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed...
October 13, 2016: La Revue de Médecine Interne
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