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Glycogen storage

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https://www.readbyqxmd.com/read/29784585/inhibition-of-glycogen-synthase-ii-with-rnai-prevents-liver-injury-in-mouse-models-of-glycogen-storage-diseases
#1
Natalie Pursell, Jessica Gierut, Wei Zhou, Michael Dills, Rohan Diwanji, Monika Gjorgjieva, Utsav Saxena, Jr-Shiuan Yang, Anee Shah, Nandini Venkat, Rachel Storr, Boyoung Kim, Weimin Wang, Marc Abrams, Margaux Raffin, Gilles Mithieux, Fabienne Rajas, Henryk Dudek, Bob D Brown, Chengjung Lai
Glycogen storage diseases (GSDs) of the liver are devastating disorders presenting with fasting hypoglycemia as well as hepatic glycogen and lipid accumulation, which could lead to long-term liver damage. Diet control is frequently utilized to manage the potentially dangerous hypoglycemia, but there is currently no effective pharmacological treatment for preventing hepatomegaly and concurrent liver metabolic abnormalities, which could lead to fibrosis, cirrhosis, and hepatocellular adenoma or carcinoma. In this study, we demonstrate that inhibition of glycogen synthesis using an RNAi approach to silence hepatic Gys2 expression effectively prevents glycogen synthesis, glycogen accumulation, hepatomegaly, fibrosis, and nodule development in a mouse model of GSD III...
April 27, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29770361/differential-diagnosis-of-vacuolar-muscle-biopsies-use-of-p62-lc3-and-lamp2-immunohistochemistry
#2
Elisa Vittonatto, Silvia Boschi, Loredana CHIADò-Piat, Valentina Ponzalino, Sara Bortolani, Chiara Brusa, Innocenzo Rainero, Federica Ricci, Liliana Vercelli, Tiziana Mongini
Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns for autophagic markers p62, LC3 and LAMP2 with routine histochemical markers in 39 biopsies from patients with definite diagnoses of glycogen storage disease type 2 (LOPD or Pompe disease, PD), sporadic inclusion body myositis (sIBM), oculo-pharyngeal muscular dystrophy (OPMD) and necrotizing myopathy (NM)...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29750741/hemophagocytic-lymphohystiocytosis-associated-with-type-ia-glycogen-storage-disease
#3
Yeter Düzenli Kar, Zeynep C Özdemir, Eylem Kiral, Gonca Kiliç Yildirim, Ener Ç Dinleyici, Özcan Bör
BACKGROUND: Hemophagocytic lymphohystiocytosis (HLH) is characterized by fever, splenomegaly, pancytopenia, and elevated levels of triglycerides and ferritin. These signs and symptoms are common to other metabolic diseases. OBSERVATION: A 5-month-old female infant, who presented with fever, respiratory distress, massive hepatomegaly, and bicytopenia, was diagnosed as having HLH and chemotherapy was initiated. The patient was negative for familial HLH gene mutations...
May 10, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29749992/a-new-mutation-causing-severe-infantile-onset-pompe-disease-responsive-to-enzyme-replacement-therapy
#4
Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar
Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase ( GAA ) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme...
March 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29740774/sirtuin-signaling-controls-mitochondrial-function-in-glycogen-storage-disease-type-ia
#5
Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia) deficient in glucose-6-phosphatase-α (G6Pase-α) is a metabolic disorder characterized by impaired glucose homeostasis and a long-term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mitochondrial dysfunction has been implicated in GSD-Ia but the underlying mechanism and its contribution to HCA/HCC development remain unclear. We have shown that hepatic G6Pase-α deficiency leads to downregulation of sirtuin 1 (SIRT1) signaling that underlies defective hepatic autophagy in GSD-Ia...
May 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29728912/effect-of-cryopreservation-on-the-appearance-and-liver-function-of-hepatocyte-like-cells-in-cultures-of-cirrhotic-liver-of-biliary-atresia
#6
Taisuke Yamazaki, Shin Enosawa, Takayoshi Tokiwa
Previously, we reported that non-parenchymal cell (NPC) fractions from cirrhotic liver of biliary atresia (BA) may contain stem/progenitor cells, and clusters of hepatocyte-like cells appear via hepatocyte growth factor/c-Met signaling in primary cultures of NPCs. BA is a rare and serious liver disease, and procurement of BA cells is difficult. Therefore, cryopreservation of BA liver cells is an unavoidable challenge. In this study, we examined the appearance and liver function of hepatocyte-like cells in cultures of BA liver-derived NPC fractions after cryopreservation for 1 or 6 mo using a chemically defined cryopreservation solution, STEM-CELLBANKER...
May 4, 2018: In Vitro Cellular & Developmental Biology. Animal
https://www.readbyqxmd.com/read/29728647/opiate-associated-contextual-memory-formation-and-retrieval-are-differentially-modulated-by-dopamine-d1-and-d2-signaling-in-hippocampal-prefrontal-connectivity
#7
Yunpeng Wang, Hongying Zhang, Jingjing Cui, Jing Zhang, Fangyuan Yin, Hao Guo, Jianghua Lai, Bo Xing
Contextual memory driven by abused drugs such as opiates has a central role in maintenance and relapse of drug-taking behaviors. Although dopamine (DA) signaling favors memory storage and retrieval via regulation of hippocampal-prefrontal connectivity, its role in modulating opiate-associated contextual memory is largely unknown. Here, we report roles of DA signaling within the hippocampal-prefrontal circuit for opiate-related memories. Combining-conditioned place preference (CPP) with molecular analyses, we investigated the DA D1 receptor (D1R) and extracellular signal-regulated kinase (ERK)-cAMP-response element binding protein (CREB) signaling, as well as DA D2 receptor (D2R) and protein kinase B (PKB or Akt)/glycogen synthase kinase 3 (GSK3) signaling in the ventral hippocampus (vHip) and medial prefrontal cortex (mPFC) during the formation of opiate-related associative memories...
April 17, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29725246/dehydroepiandrosterone-supplementation-combined-with-weight-loading-whole-body-vibration-training-wwbv-affects-exercise-performance-and-muscle-glycogen-storage-in-middle-aged-c57bl-6-mice
#8
Yi-Ming Chen, Hao-Chieh Lee, Mu-Tsung Chen, Chi-Chang Huang, Wen-Chyuan Chen
Background : Adequate nutritional intake and an optimal training program are important elements of any strategy to preserve or increase muscle mass and strength during aging. Purpose : In the current study, we investigate the effects of Dehydroepiandrosterone (DHEA), one of the most abundant circulating steroids in humans and a precursor hormone, supplementation combined with a weight-loading whole-body vibration (WWBV) on exercise performance, physical fatigue-related biochemical responses and testosterone content in middle-aged 9 months old C57BL/6 mice...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29719821/the-physiopathological-role-of-the-exchangers-belonging-to-the-slc37-family
#9
REVIEW
Anna Rita Cappello, Rosita Curcio, Rosamaria Lappano, Marcello Maggiolini, Vincenza Dolce
The human SLC37 gene family includes four proteins SLC37A1-4, localized in the endoplasmic reticulum (ER) membrane. They have been grouped into the SLC37 family due to their sequence homology to the bacterial organophosphate/phosphate (Pi) antiporter. SLC37A1-3 are the less characterized isoforms. SLC37A1 and SLC37A2 are Pi-linked glucose-6-phosphate (G6P) antiporters, catalyzing both homologous (Pi/Pi) and heterologous (G6P/Pi) exchanges, whereas SLC37A3 transport properties remain to be clarified. Furthermore, SLC37A1 is highly homologous to the bacterial glycerol 3-phosphate permeases, so it is supposed to transport also glycerol-3-phosphate...
2018: Frontiers in Chemistry
https://www.readbyqxmd.com/read/29709217/glycogenic-hepatopathy
#10
Johad Khoury, Yaniv Zohar, Naim Shehadeh, Tarek Saadi
BACKGROUND: Glycogenic hepatopathy (GH) is a disorder associated with uncontrolled diabetes mellitus, most commonly type 1, expressed as right upper quadrant abdominal pain, hepatomegaly and increased liver enzymes. The diagnosis may be difficult, because laboratory and imaging tests are not pathognomonic. Although GH may be suggested based on clinical presentation and imaging studies, the gold standard for diagnosis is a liver biopsy, showing a significant accumulation of glycogen within the hepatocytes...
April 2018: Hepatobiliary & Pancreatic Diseases International: HBPD INT
https://www.readbyqxmd.com/read/29695245/identification-of-genomic-regions-and-candidate-genes-for-chicken-meat-ultimate-ph-by-combined-detection-of-selection-signatures-and-qtl
#11
Elisabeth Le Bihan-Duval, Christelle Hennequet-Antier, Cécile Berri, Stéphane A Beauclercq, Marie Christine Bourin, Maryse Boulay, Olivier Demeure, Simon Boitard
BACKGROUND: The understanding of the biological determinism of meat ultimate pH, which is strongly related to muscle glycogen content, is a key point for the control of muscle integrity and meat quality in poultry. In the present study, we took advantage of a unique model of two broiler lines divergently selected for the ultimate pH of the pectoralis major muscle (PM-pHu) in order to decipher the genetic control of this trait. Two complementary approaches were used: detection of selection signatures generated during the first five generations and genome-wide association study for PM-pHu and Sartorius muscle pHu (SART-pHu) at the sixth generation of selection...
April 25, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29686746/black-seed-thymoquinone-improved-insulin-secretion-hepatic-glycogen-storage-and-oxidative-stress-in-streptozotocin-induced-diabetic-male-wistar-rats
#12
Heba M A Abdelrazek, Omnia E Kilany, Muhammad A A Muhammad, Hend M Tag, Aaser M Abdelazim
Diabetes mellitus is one of the metabolic diseases having several complications. Nigella sativa oil (NSO) might have beneficial effects in the treatment of diabetic complications. Thirty-two mature male Wistar rats were equally divided into four experimental groups: control, control NSO 2 mL/kg, streptozotocin- (STZ-) induced diabetic, and diabetic (STZ-induced) treated with oral NSO 2 mg/kg for 30 days. Fasting blood glucose (FBG), insulin, and lipid profile levels were determined. Pancreatic and hepatic tissues were used for catalase and GSH...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29669272/glycogen-synthesis-and-metabolite-overflow-contribute-to-energy-balancing-in-cyanobacteria
#13
Melissa Cano, Steven C Holland, Juliana Artier, Rob L Burnap, Maria Ghirardi, John A Morgan, Jianping Yu
Understanding how living cells manage high-energy metabolites such as ATP and NADPH is essential for understanding energy transformations in the biosphere. Using light as the energy input, we find that energy charge (ratio of ATP over ADP+ATP) in the cyanobacterium Synechocystis sp. PCC 6803 varies in different growth stages, with a peak upon entry into the rapid growth phase, as well as a positive correlation with light intensity. In contrast, a mutant that can no longer synthesize the main carbon storage compound glycogen showed higher energy charge...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29668480/the-6th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-11th-2017
#14
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth, spodilocostal dysplasia, precocious puberty has been done with collaboration of Macedonian and foreign researchers...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29668449/budgetary-impact-of-medicinal-therapies-for-rare-diseases-in-bulgaria
#15
Georgi G Iskrov, Mihajlo Michael Jakovljevic, Rumen S Stefanov
BACKGROUND: Rare diseases have been continually outlined as one of the causes for the National Health Insurance Fund's (NHIF) deficit spending in Bulgaria. AIM: To estimate the budgetary impact of rare disease medicinal therapies from NHIF perspective for 2014 and 2016. MATERIALS AND METHODS: Budgetary impact of rare diseases is calculated as a percentage of NHIF total pharmaceutical spending. Total expenditure per ICD-10 code, mean annual number of patients reimbursed and mean annual cost per patient are analysed...
March 1, 2018: Folia Medica
https://www.readbyqxmd.com/read/29666062/morning-hyperinsulinemia-primes-the-liver-for-glucose-uptake-and-glycogen-storage-later-in-the-day
#16
Mary Courtney Moore, Marta S Smith, Ben Farmer, Katie C Coate, Guillaume Kraft, Masakazu Shiota, Phillip E Williams, Alan D Cherrington
We observed that a 4h morning (AM) duodenal infusion of glucose vs saline doubled hepatic glucose uptake (HGU) and storage during a hyperinsulinemic hyperglycemic (HIHG) clamp that afternoon (PM). To separate the effects of AM hyperglycemia vs AM hyperinsulinemia on the PM response, we used hepatic balance and tracer (3 H-glucose) techniques in conscious dogs. From 0-240 min, dogs underwent a euinsulinemic hyperglycemic (GLC; n =7) or hyperinsulinemic euglycemic (INS; n =8) clamp. Tracer equilibration and basal sampling occurred from 240-360 min, followed by a HIHG clamp (360-600 min; 4xbasal insulin, 2xbasal glycemia) with portal glucose infusion (4 mg...
April 17, 2018: Diabetes
https://www.readbyqxmd.com/read/29663456/label-free-identification-of-myopathological-features-with-coherent-anti-stokes-raman-scattering
#17
Daniel Niedieker, Frederik Großerüschkamp, Anja Schreiner, Katalin Barkovits, Carsten Kötting, Katrin Marcus, Klaus Gerwert, Matthias Vorgerd
INTRODUCTION: The aim of this study was the label-free identification of distinct myopathological features with coherent anti-Stokes Raman scattering (CARS) imaging, which leaves the sample intact for further analysis. METHODS: The protein distribution was determined without labels by CARS at 2930 cm-1 and was compared with the results of standard histological staining. RESULTS: CARS imaging enabled the visualization of glycogen accumulation in glycogen storage disease type 5 (McArdle) and of internal nuclei in centronuclear myopathy...
April 16, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29663270/molecular-biology-and-gene-therapy-for-glycogen-storage-disease-type-ib
#18
Janice Y Chou, Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield
Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α) or the ubiquitously expressed G6Pase-β. A deficiency in G6Pase-α causes GSD type Ia (GSD-Ia) and a deficiency in G6Pase-β causes GSD-I-related syndrome (GSD-Irs)...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29663268/dental-and-periodontal-manifestations-of-glycogen-storage-diseases-a-case-series-of-60-patients
#19
Martin Biosse Duplan, Aurélie Hubert, Elvire Le Norcy, Alice Louzoun, Ariane Perry, Catherine Chaussain, Philippe Labrune
Glycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29660529/bmsuc1-is-essential-for-glycometabolism-modulation-in-the-silkworm-bombyx-mori
#20
Quan Gan, Xinwei Zhang, Daobo Zhang, Liang Shi, Yue Zhou, Tongtong Sun, Song Jiang, Junshan Gao, Yan Meng
Sucrose is the most commonly transported sugar in plants and is easily assimilated by insects to fulfill the requirement of physiological metabolism. BmSuc1 is a novel animal β-fructofuranosidase (β-FFase, EC 3.2.1.26)-encoding gene that was firstly cloned and identified in silkworm, Bombyx mori. BmSUC1 was presumed to play an important role in the silkworm-mulberry enzymatic adaptation system by effectively hydrolyzing sucrose absorbed from mulberry leaves. However, this has not been proved with direct evidence thus far...
April 14, 2018: Biochimica et Biophysica Acta
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