Results 31 to 40 of about 3,970 (204)

Late Presentation of McArdle's Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature. [PDF]

Case Rep Rheumatol
McArdle disease or glycogen storage disease Type V is a genetic condition caused by PYGM gene mutations leading to exercise intolerance and fatigability. The condition most commonly presents in childhood. In rare cases, patients have presented with late‐onset McArdle disease.
Elghobashy M, Pohl U, Bateman J.
europepmc   +2 more sources

Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]

, 2018
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.   +4 more
core   +2 more sources

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

An extracellular cell-attached pullulanase confers branched α-glucan utilization in human gut Lactobacillus acidophilus [PDF]

, 2017
Of the few predicted extracellular glycan-active enzymes, glycoside hydrolase family 13 subfamily 14 (GH13_14) pullulanases are the most common in human gut lactobacilli.
Abou Hachem, Maher, Celebioglu, Hasan Ufuk, Cypryk, Wojciech, Goh, Yong Jun, Klaenhammer, Todd R, Møller, Marie Sofie, Rasmussen, Kasper Bøwig, Svensson, Birte   +7 more
core   +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

Glycogen storage disease type III: A novel Agl knockout mouse model [PDF]

, 2014
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL.
Bordoni, Andreina, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania, Gatti, Stefano, Lucchiari, Sabrina, Moggio, Maurizio, Nizzardo, Monica, Pagliarani, Serena, Ripolone, Michela, Ulzi, Gianna, Violano, Raffaella   +11 more
core   +1 more source

Oligosaccharide recognition and binding to the carbohydrate binding module of AMP-activated protein kinase [PDF]

, 2007
The AMP-activated protein kinase (AMPK) contains a carbohydrate-binding module (β1-CBM) that is conserved from yeast to mammals. β1-CBM has been shown to localize AMPK to glycogen in intact cells and in vitro.
Gooley, Paul R., Koay, Ann, Mertens, Haydyn D.T., Rimmer, Kieran A., Stapleton, David   +4 more
core   +1 more source

Purification of Glycogen Debranching Enzyme from Porcine Brain: Evidence for Glycogen Catabolism in the Brain [PDF]

Bioscience, Biotechnology, and Biochemistry, 2006
Amylo-1,6-glucosidase from porcine brain was purified to homogeneity by ammonium sulfate fractionation, followed by sequential steps of liquid chromatography on DEAE-Sephacel, Sephacryl S-300, and Super Q. The purified enzyme had both maltooligosaccharide transferase and amylo-1,6-glucosidase activities within a single polypeptide chain, and the ...
Kaoru Omichi, Yasushi Makino
openaire   +2 more sources

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

Glycogen and its metabolism: some new developments and old themes [PDF]

, 2012
Glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in times of need. Its metabolism has been the subject of extensive investigation and much is known about its regulation by ...
Depaoli-Roach, Anna A., Hurley, Thomas D., Roach, Peter J., Tagliabracci, Vincent S.   +3 more
core   +1 more source