Results 1 to 10 of about 6,472 (149)

Structure and Evolution of Glycogen Branching Enzyme N-Termini From Bacteria [PDF]

Frontiers in Microbiology, 2019
In bacteria, glycogen plays important roles in carbon and energy storage. Its structure has recently been linked with bacterial environmental durability.
Liang Wang, Liang Wang, Qinghua Liu, Junfeng Hu, James Asenso, Michael J. Wise, Michael J. Wise, Xiang Wu, Chao Ma, Xiuqing Chen, Jianye Yang, Daoquan Tang, Daoquan Tang   +12 more
doaj   +9 more sources

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene [PDF]

Frontiers in Genetics, 2022
Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems.
Yiyang Li, Yiyang Li, Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Weijie Zhang, Qiuyu Liutang, Qiuyu Liutang, Yajun Wang, Yajun Wang, Guoda Ma, Guoda Ma, Riling Chen, Riling Chen   +14 more
doaj   +2 more sources

Expression and characterization of thermostable glycogen branching enzyme from Geobacillus mahadia Geo-05 [PDF]

PeerJ, 2016
The glycogen branching enzyme (EC 2.4.1.18), which catalyses the formation of α-1,6-glycosidic branch points in glycogen structure, is often used to enhance the nutritional value and quality of food and beverages. In order to be applicable in industries,
Nur Syazwani Mohtar, Mohd Basyaruddin Abdul Rahman, Raja Noor Zaliha Raja Abd Rahman, Thean Chor Leow, Abu Bakar Salleh, Mohd Noor Mat Isa   +5 more
doaj   +3 more sources

Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET [PDF]

Nature Communications, 2019
Higher organisms regulate cellular iron concentrations through Iron Regulatory Proteins (IRPs), which regulate specific messenger RNAs. Here Huynh et al.
Nhan Huynh, Qiuxiang Ou, Pendleton Cox, Roland Lill, Kirst King-Jones   +4 more
doaj   +2 more sources

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy [PDF]

Journal of Lipid Research, 2017
Adult polyglucosan body disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss.
Rafael Alvarez, Jesús Casas, David J. López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V. Escribá   +10 more
doaj   +2 more sources

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

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase [PDF]

Journal of Neurochemistry, 2013
AbstractUncontrolled elongation of glycogen chains, not adequately balanced by their branching, leads to the formation of an insoluble, presumably neurotoxic, form of glycogen called polyglucosan. To test the suspected pathogenicity of polyglucosans in neurological glycogenoses, we have modeled the typical glycogenosis Adult Polyglucosan Body Disease ...
Or Kakhlon, Tatsuo Terashima, Alexander Lossos   +2 more
exaly   +3 more sources

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease [PDF]

JIMD Reports
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1, resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”).
Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
doaj   +2 more sources

Structural features of the glycogen branching enzyme encoding genes from aspergilli

Microbiological Research, 2002
A maltose binding protein, p78, was purified to homogeneity from Aspergillus nidulans by a single column chromatography step on cross-linked amylose. The partial amino acid sequence was highly homologous to the glycogen branching enzymes (GBEs) of human and yeast, and p78 did show branching enzyme activity.
Tetsuo Kobayashi, Masashi Kato, Norihiro Tsukagoshi   +2 more
exaly   +3 more sources

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