Results 31 to 40 of about 6,177 (249)

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

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

Glycogen synthase isoforms in Synechocystis sp. PCC6803: identification of different roles to produce glycogen by targeted mutagenesis. [PDF]

PLoS ONE, 2014
Synechocystis sp. PCC6803 belongs to cyanobacteria which carry out photosynthesis and has recently become of interest due to the evolutionary link between bacteria and plant species.
Sang-Ho Yoo, Byung-Hoo Lee, Youyoun Moon, Martin H Spalding, Jay-Lin Jane   +4 more
doaj   +1 more source

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

Preparation of Branched Starch by Α-Amylase and Thermophilic Glycogen Branching Enzyme Modification

Food Chemistry
Jing Zhu, Yi Gao, Zhaofeng Li, Cheng Lü, Xing Zhou, Long Chen, Chao Qiu, Zhengyu Jin, Jie Long   +8 more
openalex   +2 more sources

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Cell Reports, 2019
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood.
Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke   +12 more
doaj   +1 more source

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Frontiers in Genetics, 2022
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent
Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani   +5 more
doaj   +1 more source

Comparative genomic and phylogenetic analyses of Gammaproteobacterial glg genes traced the origin of the Escherichia coli glycogen glgBXCAP operon to the last common ancestor of the sister orders Enterobacteriales and Pasteurellales. [PDF]

PLoS ONE, 2015
Production of branched α-glucan, glycogen-like polymers is widely spread in the Bacteria domain. The glycogen pathway of synthesis and degradation has been fairly well characterized in the model enterobacterial species Escherichia coli (order ...
Goizeder Almagro, Alejandro M Viale, Manuel Montero, Mehdi Rahimpour, Francisco José Muñoz, Edurne Baroja-Fernández, Abdellatif Bahaji, Manuel Zúñiga, Fernando González-Candelas, Javier Pozueta-Romero   +9 more
doaj   +1 more source