Results 11 to 20 of about 6,311 (212)

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene. [PDF]

Pediatr Gastroenterol Hepatol Nutr, 2018
Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene
Choi SY, Kang B, Choe JY, Lee Y, Jang HJ, Park HD, Lee SK, Choe YH.   +7 more
europepmc   +5 more sources

Glycogen Branching Enzyme Deficiency in Quarter Horse Foals [PDF]

Journal of Veterinary Internal Medicine, 2001
Abstract Seven related Quarter Horse foals that died by 7 weeks of age were examined for glycogen branching enzyme (GBE) deficiency. Clinical signs varied from stillbirth, transient flexural limb deformities, seizures, and respiratory or cardiac failure to persistent recumbency. Leukopenia (5 of 5 foals) as well as high serum creatine
S J, Valberg, T L, Ward, B, Rush, H, Kinde, H, Hiraragi, D, Nahey, J, Fyfe, J R, Mickelson   +7 more
openaire   +2 more sources

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source

Liver Transplantation for Glycogen Storage Disease Type IV

Frontiers in Pediatrics, 2021
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues.
Min Liu, Min Liu, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source

The influence of amylose content on the modification of starches by glycogen branching enzymes

Food Chemistry, 2022
Glycogen branching enzymes (GBEs) have been used to generate new branches in starches for producing slowly digestible starches. The aim of this study was to expand the knowledge about the mode of action of these enzymes by identifying structural aspects of starchy substrates affecting the products generated by different GBEs.
Gaenssle, Aline L O, van der Maarel, Marc J E C, Jurak, Edita   +2 more
openaire   +3 more sources

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder

Frontiers in Neurology, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Joseph R. Abraham, Frederick M. Allen, John Barnard, Daniela Schlatzer, Marvin R. Natowicz, Marvin R. Natowicz   +5 more
doaj   +1 more source

Characterization of the GH13 and GH57 glycogen branching enzymes from Petrotoga mobilis SJ95 and potential role in glycogen biosynthesis.

PLoS ONE, 2019
Glycogen is a highly branched α-glucan polymer widely used as energy and carbon reserve by many microorganisms. The branches are introduced by glycogen branching enzymes (EC 2.4.1.18), that are classified into glycoside hydrolase families 13 (GH13) and ...
Xuewen Zhang, Hans Leemhuis, Marc J E C van der Maarel   +2 more
doaj   +1 more source

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Molecular Genetics and Metabolism Reports, 2018
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi   +7 more
doaj   +1 more source

Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. [PDF]

PLoS ONE, 2010
When oxygen becomes limiting, cells reduce mitochondrial respiration and increase ATP production through anaerobic fermentation of glucose. The Hypoxia Inducible Factors (HIFs) play a key role in this metabolic shift by regulating the transcription of ...
Nuria Pescador, Diego Villar, Daniel Cifuentes, Mar Garcia-Rocha, Amaya Ortiz-Barahona, Silvia Vazquez, Angel Ordoñez, Yolanda Cuevas, David Saez-Morales, Maria Laura Garcia-Bermejo, Manuel O Landazuri, Joan Guinovart, Luis del Peso   +12 more
doaj   +1 more source

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV

Children, 2023
Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
doaj   +1 more source