Results 31 to 40 of about 38,476 (238)

Neuromuscular forms of glycogen branching enzyme deficiency. [PDF]

Acta Myol, 2007
Deficiency of glycogen branching enzyme is causative of Glycogen Storage Disease type IV (GSD-IV), a rare autosomal recessive disorder of the glycogen synthesis, characterized by the accumulation of amylopectin-like polysaccharide, also known as polyglucosan, in almost all tissues.
Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S.   +5 more
europepmc   +3 more sources

THE ACTION OF BRANCHING ENZYMES ON OUTER CHAINS OF GLYCOGEN [PDF]

Journal of Biological Chemistry, 1953
Joseph Larner
openalex   +3 more sources

Identification of Thermotoga maritima MSB8 GH57 α-amylase AmyC as a glycogen-branching enzyme with high hydrolytic activity. [PDF]

Appl Microbiol Biotechnol, 2019
Zhang X, Leemhuis H, Janeček Š, Martinovičová M, Pijning T, van der Maarel MJEC.   +5 more
europepmc   +3 more sources

A distinctive function of GH13_8 subfamily glycogen branching enzyme in Anaerococcus prevotii DSM 20548: Preference to create very short branches

International Journal of Biological Macromolecules
Chen Yang, Marc J. E. C. van der Maarel, Edita Jurak   +2 more
openalex   +2 more sources

Molecular basis of impaired glycogen metabolism during ischemic stroke and hypoxia. [PDF]

PLoS ONE, 2014
BACKGROUND: Ischemic stroke is the combinatorial effect of many pathological processes including the loss of energy supplies, excessive intracellular calcium accumulation, oxidative stress, and inflammatory responses.
Mohammed Iqbal Hossain, Carli Lorraine Roulston, David Ian Stapleton   +2 more
doaj   +1 more source

Dysfunctional muscle and liver glycogen metabolism in mdx dystrophic mice. [PDF]

PLoS ONE, 2014
Duchenne muscular dystrophy (DMD) is a severe, genetic muscle wasting disorder characterised by progressive muscle weakness. DMD is caused by mutations in the dystrophin (dmd) gene resulting in very low levels or a complete absence of the dystrophin ...
David I Stapleton, Xianzhong Lau, Marcelo Flores, Jennifer Trieu, Stefan M Gehrig, Annabel Chee, Timur Naim, Gordon S Lynch, René Koopman   +8 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

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

GH13 Glycogen branching enzymes can adapt the substrate chain length towards their preferences via α-1,4-transglycosylation

Enzyme and Microbial Technology, 2021
Aline L.O. Gaenssle, Hilda Hubertha Maria Bax, Marc J. E. C. van der Maarel, Edita Jurak   +3 more
openalex   +2 more sources

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