Biochemical and Biophysical Research Communications
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with Type IV glycogen storage disease
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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
2018, Molecular Genetics and Metabolism ReportsCitation Excerpt :Written informed consent was obtained from the patient and his parents for all experiments described herein, per the tenets of the Declaration of Helsinki, in addition to consent for publication. Erythrocyte GBE activity was analyzed using a previously described method [34,35]. Phosphorylase b kinase enzyme activity in erythrocytes was measured to eliminate the possibility of sample inactivation.
Alanine 310 is important for the activity of 1,4-α-glucan branching enzyme from Geobacillus thermoglucosidans STB02
2017, International Journal of Biological MacromoleculesCitation Excerpt :Numerous 1,4-α-glucan branching enzymes (GBEs, EC 2.4.1.18) have been characterized from various sources, including plants [1], microorganisms [2,3], animal tissues [4].
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: A case report and review
2012, Human PathologyCitation Excerpt :Sequencing was performed separately in both the forward and reverse directions and compared with the reference sequences (GenBank accession No. NC_000003.10). GBE activity was analyzed in snap-frozen heart muscle obtained at autopsy using a standard spectrophotometric method [9,12]. The residual enzyme activity was assayed indirectly by measuring the amount of phosphate released using Roche phosphate reagent, and the activity was expressed as micromole per minute per gram tissue.
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