Results 31 to 40 of about 2,890 (187)

Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa

Molecular Genetics and Metabolism Reports, 2022
Background: Glycogen storage diseases type IIIa and b (GSDIII) are rare inherited metabolic disorders that are caused by deficiencies of the glycogen debranching enzyme, resulting in the accumulation of abnormal glycogen (‘limit dextrin’) in the muscles.
Burcu Kumru Akin, Burcu Ozturk Hismi, Anne Daly   +2 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

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

Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing

Stem Cell Research, 2018
Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII).
Guosheng Xu, Dongsheng Guo, Feima Wu, Nasir Abbas, Keyu Lai, Fang Yuan, Kai You, Yanli Liu, Yuanqi Zhuang, Yuhang Wu, Yingying Xu, Yan Chen, Fan Yang, Tingcai Pan, Yin-xiong Li   +14 more
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

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

Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature

Frontiers in Nutrition, 2023
Glycogen storage disease Type III (GSD III) is an autosomal recessive disease due to the deficiency of the debranching enzyme, which has two main consequences: a reduced availability of glucose due to the incomplete degradation of glycogen, and the ...
Elena Massimino, Anna Paola Amoroso, Roberta Lupoli, Alessandro Rossi, Brunella Capaldo   +4 more
doaj   +1 more source

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Current Issues in Molecular Biology, 2023
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue.
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino   +31 more
doaj   +1 more source

Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease

Biomédica: revista del Instituto Nacional de Salud, 2018
Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme.
Carolina Mantilla, Mónica Toro, María Elsy Sepúlveda, Margarita Insuasty, Diana di Filippo, Juan Álvaro López, Carolina Baquero, María Cristina Navas, Andrés Augusto Arias   +8 more
doaj   +1 more source

Analysis of Mesorhizobium loti Glycogen Operon: Effect of Phosphoglucomutase (pgm) and Glycogen Synthase (glgA) Null Mutants on Nodulation of Lotus tenuis

Molecular Plant-Microbe Interactions, 2002
The phosphoglucomutase (pgm) gene codes for a key enzyme required for the formation of UDP-glucose and ADP-glucose, the sugar donors for the biosynthesis of glucose containing polysaccharides.
Viviana C. Lepek, Alejandra L. D'Antuono, Pablo E. Tomatis, Juan E. Ugalde, Susana Giambiagi, Rodolfo A. Ugalde   +5 more
doaj   +1 more source