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Glycogen storage

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https://www.readbyqxmd.com/read/28239648/liver-x-receptor-%C3%AE-mediates-hepatic-triglyceride-accumulation-through-upregulation-of-g0-g1-switch-gene-2-expression
#1
Bradlee L Heckmann, Xiaodong Zhang, Alicia M Saarinen, Gabriele Schoiswohl, Erin E Kershaw, Rudolf Zechner, Jun Liu
Liver X receptors (LXRs) are transcription factors essential for cholesterol homeostasis and lipogenesis. LXRα has been implicated in regulating hepatic triglyceride (TG) accumulation upon both influx of adipose-derived fatty acids (FAs) during fasting and stimulation of de novo FA synthesis by chemical agonism of LXR. However, whether or not a convergent mechanism is employed to drive deposition of FAs from these 2 different sources in TGs is undetermined. Here, we report that the G0/G1 Switch Gene 2 (G0S2), a selective inhibitor of intracellular TG hydrolysis/lipolysis, is a direct target gene of LXRα...
February 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28224773/novel-slc37a4-mutations-in-korean-patients-with-glycogen-storage-disease-ib
#2
Rihwa Choi, Hyung Doo Park, Jung Min Ko, Jeongho Lee, Dong Hwan Lee, Suk Jin Hong, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yon Ho Choe
BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or whole-exome sequencing. A comprehensive review of previously reported SLC37A4 mutations was also conducted...
May 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28223362/mechanistic-insights-into-the-allosteric-regulation-of-bacterial-adp-glucose-pyrophosphorylases
#3
Natalia Comino, Javier Cifuente, Alberto Marina, Ane Orrantia, Ander Eguskiza, Marcelo E Guerin
ADP-glucose pyrophosphorylase (AGPase) controls bacterial glycogen and plant starch biosynthetic pathways, the most common carbon storage polysaccharides in nature. AGPase activity is allosterically regulated by a series of metabolites in the energetic flux within the cell. Very recently, we reported the first crystal structures of the paradigmatic AGPase from Escherichia coli (EcAGPase) in complex with its preferred physiological negative and positive allosteric regulators, adenosine-5'-monophosphate (AMP) and fructose-1,6-bisphosphate (FBP), respectively...
February 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28216105/-increasing-the-carbohydrate-storage-capacity-of-plants-by-engineering-a-glycogen-like-polymer-pool-in-the-cytosol
#4
Simona Eicke, David Seung, Barbara Egli, Emanuel A Devers, Sebastian Streb
Global demand for higher crop yields and for more efficient utilization of agricultural products will grow over the next decades. Here, we present a new concept for boosting the carbohydrate content of plants, by channeling photosynthetically fixed carbon into a newly engineered glucose polymer pool. We transiently expressed the starch/glycogen synthases from either Saccharomyces cerevisiae or Cyanidioschyzon merolae, together with the starch branching enzyme from C. merolae, in the cytosol of Nicotiana benthamiana leaves...
February 16, 2017: Metabolic Engineering
https://www.readbyqxmd.com/read/28213130/dipeptidyl-peptidase-4-impairs-insulin-signaling-and-promotes-lipid-accumulation-in-hepatocytes
#5
Kerstin Rufinatscha, Bernhard Radlinger, Jochen Dobner, Sabrina Folie, Claudia Bon, Elisabeth Profanter, Claudia Ress, Karin Salzmann, Gabriele Staudacher, Herbert Tilg, Susanne Kaser
Dipeptidyl-peptidase 4 [DPP-4) has evolved into an important target in diabetes therapy due to its role in incretin hormone metabolism. In contrast to its systemic effects, cellular functions of membranous DPP-4 are less clear. Here we studied the role of DPP-4 in hepatic energy metabolism. In order to distinguish systemic from cellular effects we established a cell culture model of DPP-4 knockdown in human hepatoma cell line HepG2. DPP-4 suppression was associated with increased basal glycogen content due to enhanced insulin signaling as shown by increased phosphorylation of insulin-receptor substrate 1 (IRS-1), protein kinase B/Akt and mitogen-activated protein kinases (MAPK)/ERK, respectively...
February 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28190645/pgm1-deficiency-substrate-use-during-exercise-and-effect-of-treatment-with-galactose
#6
N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise...
January 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28177701/acute-upregulation-of-pgc-1%C3%AE-mrna-correlates-with-training-induced-increases-in-sdh-activity-in-human-skeletal-muscle
#7
Jacob T Bonafiglia, Brittany A Edgett, Brittany L Baechler, Matthew William Nelms, Craig A Simpson, Joe Quadrilatero, Brendon J Gurd
The purpose of the present study was to determine if acute responses in pgc-1α, vegfa, sdha, and gpd1/2 mRNA expression predict their associated chronic skeletal muscle molecular (SDH/GPD activity and substrate storage) and morphological (fibre type composition and capillary density) adaptations following training. Skeletal muscle biopsies were collected from fourteen recreationally active men (age: 22.0 ± 2.4 years) before (PRE) and 3 hours after (3HR) the completion of an acute bout of SIT (eight, 20-second intervals at ~170% VO2peak work rate separated by 10 seconds of recovery)...
February 2, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28174290/priming-effect-of-a-morning-meal-on-hepatic-glucose-disposition-later-in-the-day
#8
Mary Courtney Moore, Marta S Smith, Ben Farmer, Guillaume Kraft, Masakazu Shiota, Phillip E Williams, Alan D Cherrington
We used hepatic balance and tracer ((3)H-glucose) techniques to examine the impact of "breakfast" on hepatic glucose metabolism later in the same day. From 0-240 min, 2 groups (n=9 each) of conscious dogs received a duodenal infusion of glucose (GLC) or saline (SAL), then fasted from 240-360 min. Three dogs from each group were euthanized for tissue collection at 360 min. From 360-600 min, the remaining dogs underwent a hyperinsulinemic (4x basal) hyperglycemic clamp (arterial blood glucose 146±2 mg/dL) with portal glucose infusion...
February 7, 2017: Diabetes
https://www.readbyqxmd.com/read/28173655/-crohn-s-disease-in-glycogen-storage-disease-type-i-b-a-case-report
#9
X Xu, Y Xiao, W J Qiu
No abstract text is available yet for this article.
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28170191/metabolomic-profiling-of-pompe-disease-induced-pluripotent-stem-cell-derived-cardiomyocytes-reveals-that-oxidative-stress-is-associated-with-cardiac-and-skeletal-muscle-pathology
#10
Yohei Sato, Hiroshi Kobayashi, Takashi Higuchi, Yohta Shimada, Hiroyuki Ida, Toya Ohashi
Pompe disease (PD) is a lysosomal storage disease that is caused by a deficiency of the acid α-glucosidase, which results in glycogen accumulation in the lysosome. The major clinical symptoms of PD include skeletal muscle weakness, respiratory failure, and cardiac hypertrophy. Based on its severity and symptom onset, PD is classified into infantile and late-onset forms. Lysosomal accumulation of glycogen can promote many types of cellular dysfunction, such as autophagic dysfunction, endoplasmic reticulum stress, and abnormal calcium signaling within skeletal muscle...
January 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28163176/effects-of-postconditioning-on-skeletal-muscle-injury-and-apoptosis-induced-by-partial-ischemia-and-reperfusion-in-rats
#11
José Alves Lintz, Marcelo Bellini Dalio, Luiz Fernando Tirapelli, Maurício Serra Ribeiro, Edwaldo Edner Joviliano, Carlos Eli Piccinato
BACKGROUND: Analyze the effects of ischemic postconditioning on skeletal muscle injury and apoptosis produced by partial ischemia and reperfusion in rats. MATERIALS AND METHODS: An experimental study was designed using 70 Wistar rats divided in 3 groups: Sham; Control-submitted to ischemia and reperfusion; and Postconditioning-submitted to ischemia and reperfusion with ischemic postconditioning. Subgroups (n = 10) were divided by duration of ischemia (4, 5, or 6 hr)...
February 3, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#12
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
BACKGROUND: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28154884/antibody-mediated-enzyme-replacement-therapy-targeting-both-lysosomal-and-cytoplasmic-glycogen-in-pompe-disease
#13
Haiqing Yi, Tao Sun, Dustin Armstrong, Scott Borneman, Chunyu Yang, Stephanie Austin, Priya S Kishnani, Baodong Sun
: Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles. Mannose-6-phosphate receptor-mediated enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) targets the enzyme to lysosomes and thus is unable to digest cytoplasmic glycogen. Studies have shown that anti-DNA antibody 3E10 penetrates living cells and delivers "cargo" proteins to the cytosol or nucleus via equilibrative nucleoside transporter ENT2...
February 2, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28130275/modulation-of-mtor-signaling-as-a-strategy-for-the-treatment-of-pompe-disease
#14
Jeong-A Lim, Lishu Li, Orian S Shirihai, Kyle M Trudeau, Rosa Puertollano, Nina Raben
Mechanistic target of rapamycin (mTOR) coordinates biosynthetic and catabolic processes in response to multiple extracellular and intracellular signals including growth factors and nutrients. This serine/threonine kinase has long been known as a critical regulator of muscle mass. The recent finding that the decision regarding its activation/inactivation takes place at the lysosome undeniably brings mTOR into the field of lysosomal storage diseases. In this study, we have examined the involvement of the mTOR pathway in the pathophysiology of a severe muscle wasting condition, Pompe disease, caused by excessive accumulation of lysosomal glycogen...
January 27, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28127796/construction-of-bioengineered-hepatic-tissue-derived-from-human-umbilical-cord-mesenchymal-stem-cells-via-aggregation-culture-in-porcine-decellularized-liver-scaffolds
#15
Yi Li, Qiong Wu, Yujia Wang, Li Li, Fei Chen, Yujun Shi, Ji Bao, Hong Bu
BACKGROUND: An individualized, tissue-engineered liver suitable for transplanting into a patient with liver disease would be of great benefit to the patient and the healthcare system. The tissue-engineered liver would possess the functions of the original healthy organ. Two fields of study, (i) using decellularized tissue as cell scaffolding, and (ii) stem cell differentiation into functional cells, are coming together to make this concept feasible. The decellularized liver scaffolds (DLS) can interact with cells to promote cell differentiation and signal transduction and three-dimensional (3D) stem cell aggregations can maintain the phenotypes and improve functions of stem cells after differentiation by undergoing cell-cell contact...
January 26, 2017: Xenotransplantation
https://www.readbyqxmd.com/read/28126686/partial-correction-of-neutrophil-dysfunction-by-oral-galactose-therapy-in-glycogen-storage-disease-type-ib
#16
Rudolf Letkemann, Helmut Wittkowski, Aristotelis Antonopoulos, Teodor Podskabi, Stuart M Haslam, Dirk Föll, Anne Dell, Thorsten Marquardt
Glycogen storage disease type Ib (GSD-Ib) is characterized by impaired glucose homeostasis, neutropenia and neutrophil dysfunction. Mass spectrometric glycomic profiling of GSD-Ib neutrophils showed severely truncated N-glycans, lacking galactose. Experiments indicated the hypoglycosylation of the electron transporting subunit of NADPH oxidase, which is crucial for the defense against bacterial infections. In phosphoglucomutase 1 (PGM1) deficiency, an inherited disorder with an enzymatic defect just one metabolic step ahead, hypogalactosylation can be successfully treated by dietary galactose...
January 23, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28120463/a-novel-variant-in-the-pygm-gene-causing-late-onset-limb-girdle-myopathy-ptosis-and-camptocormia
#17
Chrystel Chéraud, Roseline Froissart, Béatrice Lannes, Andoni Echaniz-Laguna
INTRODUCTION: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. METHODS: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. RESULTS: Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness. Additionally, 1 patient presented with bilateral ptosis, and the other with camptocormia...
January 24, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28117144/review-alterations-in-placental-glycogen-deposition-in-complicated-pregnancies-current-preclinical-and-clinical-evidence
#18
REVIEW
Lisa K Akison, Marloes Dekker Nitert, Vicki L Clifton, Karen M Moritz, David G Simmons
Normal placental function is essential for optimal fetal growth. Transport of glucose from mother to fetus is critical for fetal nutrient demands and can be stored in the placenta as glycogen. However, the function of this glycogen deposition remains a matter of debate: It could be a source of fuel for the placenta itself or a storage reservoir for later use by the fetus in times of need. While the significance of placental glycogen remains elusive, mounting evidence indicates that altered glycogen metabolism and/or deposition accompanies many pregnancy complications that adversely affect fetal development...
January 11, 2017: Placenta
https://www.readbyqxmd.com/read/28116244/a-new-variant-in-phka2-is-associated-with-glycogen-storage-disease-type-ixa
#19
Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela Del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS). We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2):c.1963G > A, p.(Glu655Lys) in PHKA2 exon 18. In silico analyses showed two possible pathogenic consequences: it affects a highly conserved amino acid and disrupts the exon 18 canonical splice donor site...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28102838/autophagy-dysregulation-in-danon-disease
#20
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
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