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glycogen storage disease 1

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https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#1
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/28057574/a-proteomic-approach-to-identify-metalloproteins-and-metal-binding-proteins-in-liver-from-diabetic-rats
#2
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/28050582/data-on-the-phosphorylation-state-of-the-catalytic-serine-of-enzymes-in-the-%C3%AE-d-phosphohexomutase-superfamily
#3
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/28032299/new-mutations-and-genotype-phenotype-correlation-in-late-onset-pompe-patients
#4
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/27974893/recoverable-record-high-lactic-acidosis-in-a-patient-with-glycogen-storage-disease-type-1-a-mixed-type-a-and-type-b-lactate-disorder
#5
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/27931223/pattern-and-prognostic-value-of-cardiac-involvement-in-patients-with-late-onset-pompe-disease-a-comprehensive-cardiovascular-magnetic-resonance-approach
#6
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
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
#7
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/27855487/transfer-of-therapeutic-genes-into-fetal-rhesus-monkeys-using-recombinant-adeno-associated-type-i-viral-vectors
#8
Thomas J Conlon, Cathryn S Mah, Christina A Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, C Chang I 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...
December 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27806790/-clinical-observation-on-human-alpha-glucosidase-in-treatment-of-five-patients-with-glycogen-storage-disease-%C3%A2
#9
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/27718144/cardiomyopathy-as-presenting-sign-of-glycogenin-1-deficiency-report-of-three-cases-and-review-of-the-literature
#10
Carola Hedberg-Oldfors, Emma Glamuzina, Peter Ruygrok, Lisa J Anderson, Perry Elliott, Oliver Watkinson, Chris Occleshaw, Malcolm Abernathy, Clinton Turner, Nicola Kingston, Elaine Murphy, Anders Oldfors
We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis...
January 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27714243/inhibitory-properties-of-1-4-dideoxy-1-4-imino-d-arabinitol-dab-derivatives-acting-on-glycogen-metabolising-enzymes
#11
Mireia Díaz-Lobo, Alda Lisa Concia, Livia Gómez, Pere Clapés, Ignacio Fita, Joan J Guinovart, Joan C Ferrer
Glycogen synthase (GS) and glycogen phosphorylase (GP) are the key enzymes that control, respectively, the synthesis and degradation of glycogen, a multi-branched glucose polymer that serves as a form of energy storage in bacteria, fungi and animals. An abnormal glycogen metabolism is associated with several human diseases. Thus, GS and GP constitute adequate pharmacological targets to modulate cellular glycogen levels by means of their selective inhibition. The compound 1,4-dideoxy-1,4-imino-d-arabinitol (DAB) is a known potent inhibitor of GP...
September 26, 2016: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/27664461/alterations-in-membrane-trafficking-and-pathophysiological-implications-in-lysosomal-storage-disorders
#12
REVIEW
Eva-Maria Kuech, Graham Brogden, Hassan Y Naim
Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result from mutations followed by functional deficiencies of enzymes or transporters within the acidic environment of the lysosome, which mediate the degradation of a wide subset of substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen, oligosaccharides, peptides and glycoproteins, or the export of the respective degradation products from the lysosomes...
November 2016: Biochimie
https://www.readbyqxmd.com/read/27592162/a-highly-prevalent-equine-glycogen-storage-disease-is-explained-by-constitutive-activation-of-a-mutant-glycogen-synthase
#13
C A Maile, J R Hingst, K K Mahalingan, A O O'Reilly, M E Cleasby, J R Mickelson, M E McCue, S M Anderson, T D Hurley, J F P Wojtaszewski, R J Piercy
BACKGROUND: Equine type 1 polysaccharide storage myopathy (PSSM1) is associated with a missense mutation (R309H) in the glycogen synthase (GYS1) gene, enhanced glycogen synthase (GS) activity and excessive glycogen and amylopectate inclusions in muscle. METHODS: Equine muscle biochemical and recombinant enzyme kinetic assays in vitro and homology modelling in silico, were used to investigate the hypothesis that higher GS activity in affected horse muscle is caused by higher GS expression, dysregulation, or constitutive activation via a conformational change...
January 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27460348/cross-sectional-retrospective-study-of-muscle-function-in-patients-with-glycogen-storage-disease-type-iii
#14
Valérie Decostre, Pascal Laforêt, Aleksandra Nadaj-Pakleza, Marie De Antonio, Sylvain Leveugle, Gwenn Ollivier, Aurélie Canal, Kahina Kachetel, François Petit, Bruno Eymard, Anthony Behin, Karim Wahbi, Philippe Labrune, Jean-Yves Hogrel
Glycogen storage disease type III is an inherited metabolic disorder characterized by liver and muscle impairment. This study aimed to identify promising muscle function measures for future studies on natural disease progression and therapeutic trials. The age-effect on the manual muscle testing (MMT), the hand-held dynamometry (HHD), the motor function measure (MFM) and the Purdue pegboard test was evaluated by regression analysis in a cross-sectional retrospective single site study. In patients aged between 13 and 56 years old, the Purdue pegboard test and dynamometry of key pinch and knee extension strength were age-sensitive with annual losses of 1...
September 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27231184/skeletal-muscle-disorders-of-glycogenolysis-and-glycolysis
#15
REVIEW
Richard Godfrey, Ros Quinlivan
Skeletal muscle disorders of glycogenolysis and glycolysis account for most of the conditions collectively termed glycogen storage diseases (GSDs). These disorders are rare (incidence 1 in 20,000-43,000 live births), and are caused by autosomal or X-linked recessive mutations that result in a specific enzyme deficiency, leading to the inability to utilize muscle glycogen as an energy substrate. McArdle disease (GSD V) is the most common of these disorders, and is caused by mutations in the gene encoding muscle glycogen phosphorylase...
July 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27138913/neuronal-human-bace1-knockin-induces-systemic-diabetes-in-mice
#16
Kaja Plucińska, Ruta Dekeryte, David Koss, Kirsty Shearer, Nimesh Mody, Phillip D Whitfield, Mary K Doherty, Marco Mingarelli, Andy Welch, Gernot Riedel, Mirela Delibegovic, Bettina Platt
AIMS: β-Secretase 1 (BACE1) is a key enzyme in Alzheimer's disease pathogenesis that catalyses the amyloidogenic cleavage of amyloid precursor protein (APP). Recently, global Bace1 deletion was shown to protect against diet-induced obesity and diabetes, suggesting that BACE1 is a potential regulator of glucose homeostasis. Here, we investigated whether increased neuronal BACE1 is sufficient to alter systemic glucose metabolism, using a neuron-specific human BACE1 knockin mouse model (PLB4)...
July 2016: Diabetologia
https://www.readbyqxmd.com/read/27107456/a-novel-gbe1-gene-variant-in-a-child-with-glycogen-storage-disease-type-iv
#17
Samar M Said, Marine I Murphree, Taofic Mounajjed, Mounif El-Youssef, Lizhi Zhang
Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. In this study, we report a 2-year-old boy who presented with developmental delay and muscle weakness. He subsequently was diagnosed with glycogen storage disease type IV based on a liver biopsy histology and electron microscopy...
August 2016: Human Pathology
https://www.readbyqxmd.com/read/27106217/glycogen-storage-disease-type-iii-diagnosis-genotype-management-clinical-course-and-outcome
#18
Christiaan P Sentner, Irene J Hoogeveen, David A Weinstein, René Santer, Elaine Murphy, Patrick J McKiernan, Ulrike Steuerwald, Nicholas J Beauchamp, Joanna Taybert, Pascal Laforêt, François M Petit, Aurélie Hubert, Philippe Labrune, G Peter A Smit, Terry G J Derks
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal muscle, whereas GSDIIIb patients display only liver symptoms and signs. The International Study on Glycogen Storage Disease (ISGSDIII) is a descriptive retrospective, international, multi-centre cohort study of diagnosis, genotype, management, clinical course and outcome of 175 patients from 147 families (86 % GSDIIIa; 14 % GSDIIIb), with follow-up into adulthood in 91 patients...
September 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27075766/expansion-and-hepatic-differentiation-of-adult-blood-derived-cd34-progenitor-cells-and-promotion-of-liver-regeneration-after-acute-injury
#19
Min Hu, Shaowei Li, Siddharth Menon, Bo Liu, Michael S Hu, Michael T Longaker, H Peter Lorenz
UNLABELLED: The low availability of functional hepatocytes has been an unmet demand for basic scientific research, new drug development, and cell-based clinical applications for decades. Because of the inability to expand hepatocytes in vitro, alternative sources of hepatocytes are a focus of liver regenerative medicine. We report a new group of blood-derived CD34(+) progenitor cells (BDPCs) that have the ability to expand and differentiate into functional hepatocyte-like cells and promote liver regeneration...
June 2016: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/27066558/gyg1-gene-mutations-in-a-family-with-polyglucosan-body-myopathy
#20
Marina Fanin, Annalaura Torella, Marco Savarese, Vincenzo Nigro, Corrado Angelini
Defects in enzymes involved in glycogen metabolism result in glycogen storage diseases (GSDs), which may affect the skeletal and sometimes also the cardiac muscle. The most frequent abnormality causing GSDs is glycogen storage, whereas other and uncommon forms of GSD are due to a perturbation of the branching structure of glycogen. These latter GSDs are characterized by an accumulation of polyglucosan (PG),(1) an abnormal polysaccharide with few branched points and excessively long peripheral chains. PG is accumulated in PG bodies that can be easily identified in muscle by their typical features using histopathologic (strong periodic acid-Schiff [PAS] reaction, resistance to diastase digestion) and ultrastructural analyses...
October 2015: Neurology. Genetics
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