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Animal Genetics, 2017 Gaucher disease is an autosomal recessive disorder caused by deficiency of the enzyme glucosylceramidase beta (GBA; EC 3.2.1.45). Human Gaucher disease is caused by mutations in the GBA gene, and nearly 300 mutations have been identified. Gaucher disease
Huitong, Zhou +6 more
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Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations
Molecular Genetics and Metabolism, 2013Alisdair Mcneill, Daniel G Healy
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A Fluorescence Polarization Activity-Based Protein Profiling Assay in the Discovery of Potent, Selective Inhibitors for Human Nonlysosomal Glucosylceramidase [PDF]
Journal of the American Chemical Society, 2017 Human nonlysosomal glucosylceramidase (GBA2) is one of several enzymes that controls levels of glycolipids and whose activity is linked to several human disease states.
Richard J B H N Van Den Berg +2 more
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Purification of glucosylceramidase by affinity chromatography
Canadian Journal of Biochemistry, 1982Glucosylceramide:β-glucosidase (glucocerebrosidase, EC 3.2.1.45) has been purified 12 900-fold from human placenta using a specific affinity column. The ligand, glucosyl sphingosine, prepared from glucocerebroside by alkaline hydrolysis, was attached to epoxy-activated Sepharose 6B.
P M, Strasberg, J A, Lowden, D, Mahuran
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Comparison of synthetic and natural glucosylceramides as substrate for glucosylceramidase assay
Clinica Chimica Acta, 1982Commercially available [3H]glucosylceramide is derived from spleen tissue of patients with Gaucher's disease. When such tritiated glucosylceramide was diluted with unlabelled glucosylceramide from different sources and used as the substrate for assays of glucosylceramidase, the apparent activities obtained differed drastically.
A M, Vaccaro, T, Kobayashi, K, Suzuki
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Factors Affecting the Binding of Glucosylceramidase to Its Natural Substrate Dispersion
Enzyme, 2017This paper reports the results of ultracentrifugation experiments devised for investigating the interactions occurring in the conditions of the enzymatic assay between glucosylceramidase and the components of the substrate dispersion. This dispersion contains, besides glucosylceramide, taurocholate and oleic acid.
A M, Vaccaro +3 more
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Etiology of a New Identified Gaucher Disease Variant without Glucosylceramidase Defect
1988Gaucher disease, the most prevalent lysosomal storage disease, is a group of autosomal recessively inherited disorders characterized by the accumulation of glucosylceramide in lysosomes of the cells of the reticuloendothelial system. This sphingolipidosis is caused by the hereditary deficiency of the membran associated lysosomal enzyme β ...
Helen Christomanou +3 more
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Molecular Neurobiology
Parkinson's disease (PD) is a neurodegenerative disorder affecting 2-3% of those aged over 65, characterized by motor symptoms like slow movement, tremors, and muscle rigidity, along with non-motor symptoms such as anxiety and dementia. Lewy bodies, clumps of misfolded proteins, contribute to neuron loss in PD. Mutations in the GBA1 gene are considered
Júlio César Claudino dos Santos +12 more
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Parkinson's disease (PD) is a neurodegenerative disorder affecting 2-3% of those aged over 65, characterized by motor symptoms like slow movement, tremors, and muscle rigidity, along with non-motor symptoms such as anxiety and dementia. Lewy bodies, clumps of misfolded proteins, contribute to neuron loss in PD. Mutations in the GBA1 gene are considered
Júlio César Claudino dos Santos +12 more
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1988
Glucosylceramidase (EC 3.2.1.45) is a membrane-bound, lysosomal enzyme, which hydrolyzes glucosylceramide into glucose and ceramide (1). As for several other glycosphingolipid hydrolses, also for glucosylceramidase a special activator protein capable of stimulating its activity has been described in the past (2–5).
Anna Maria Vaccaro +4 more
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Glucosylceramidase (EC 3.2.1.45) is a membrane-bound, lysosomal enzyme, which hydrolyzes glucosylceramide into glucose and ceramide (1). As for several other glycosphingolipid hydrolses, also for glucosylceramidase a special activator protein capable of stimulating its activity has been described in the past (2–5).
Anna Maria Vaccaro +4 more
openaire +1 more source