Results 21 to 30 of about 3,970 (204)

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

Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report

Frontiers in Genetics, 2023
Glycogen storage disease type III (GSD-III) is an autosomal recessive metabolic disorder caused by mutations in the AGL gene, and may develop various types of pulmonary hypertension (PH).
Akito Shindo, Kazutaka Ueda, Shun Minatsuki, Yukiteru Nakayama, Satoshi Hatsuse, Kanna Fujita, Seitaro Nomura, Masaru Hatano, Norifumi Takeda, Hiroshi Akazawa, Issei Komuro   +10 more
doaj   +1 more source

Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells

Frontiers in Cell and Developmental Biology, 2023
Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE).
Lucille Rossiaud, Lucille Rossiaud, Lucille Rossiaud, Lucille Rossiaud, Lucille Rossiaud, Pascal Fragner, Pascal Fragner, Pascal Fragner, Elena Barbon, Elena Barbon, Antoine Gardin, Antoine Gardin, Manon Benabides, Manon Benabides, Manon Benabides, Emilie Pellier, Emilie Pellier, Emilie Pellier, Jérémie Cosette, Lina El Kassar, Lina El Kassar, Lina El Kassar, Karine Giraud-Triboult, Karine Giraud-Triboult, Karine Giraud-Triboult, Xavier Nissan, Xavier Nissan, Xavier Nissan, Giuseppe Ronzitti, Giuseppe Ronzitti, Lucile Hoch, Lucile Hoch, Lucile Hoch   +32 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

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice

JCI Insight, 2022
Glycogen debranching enzyme deficiency in glycogen storage disease type III (GSD III) results in excessive glycogen accumulation in multiple tissues, primarily the liver, heart, and skeletal muscle.
Jeong-A Lim, Priya S. Kishnani, Baodong Sun   +2 more
doaj   +1 more source

Identification of the Catalytic Residues of Bifunctional Glycogen Debranching Enzyme [PDF]

Journal of Biological Chemistry, 2001
Eukaryotic glycogen debranching enzyme (GDE) possesses two different catalytic activities (oligo-1,4-->1,4-glucantransferase/amylo-1,6-glucosidase) on a single polypeptide chain. To elucidate the structure-function relationship of GDE, the catalytic residues of yeast GDE were determined by site-directed mutagenesis. Asp-535, Glu-564, and Asp-670 on the
Akifumi Nakayama, Keizo Yamamoto, Shiro Tabata   +2 more
openaire   +3 more sources

Integrated functions among multiple starch synthases determine both amylopectin chain length and branch linkage location in Arabidopsis leaf starch [PDF]

, 2011
This study assessed the impact on starch metabolism in Arabidopsis leaves of simultaneously eliminating multiple soluble starch synthases (SS) from among SS1, SS2, and SS3.
D'Hulst, Christophe, Hennen-Bierwagen, Tracie A., Myers, Alan M., Mérida Berlanga, Ángel, Planchot, Veronique, Ragel de la Torre, Paula, Szydlowski, Nicolas, Wattebled, Fabrice   +7 more
core   +2 more sources

Identification of the Genes Related to the Glycogen Metabolism in Hyperthermophilic Archaeon, Sulfolobus acidocaldarius

Frontiers in Microbiology, 2021
Glycogen is a polysaccharide that comprises α-1,4-linked glucose backbone and α-1,6-linked glucose polymers at the branching points. It is widely found in organisms ranging from bacteria to eukaryotes.
Areum Lee, Eunji Bae, Jihee Park, Kyoung-Hwa Choi, Jaeho Cha, Jaeho Cha   +5 more
doaj   +1 more source

Intracellular Glycogen Assays

Bio-Protocol, 2014
Glycogen, a soluble multi-branched glucose homopolysaccharide, is composed of chains of α-1,4-linked glucose residues interconnected by α-1,6-linked branches.
Yong Jun Goh, Todd Klaenhammer
doaj   +1 more source

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

International Journal of Endocrinology, 2023
Purpose. Glycogen storage disease type III (GSDIII) is a uncommon autosomal recessive inherited metabolic disorder, which is caused by variants in the AGL gene.
Tingting Yu, Hao Fu, Aoyu Yang, Yan Liang   +3 more
doaj   +1 more source