• Pompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid α-glucosidase (GAA), resulting in systemic pathological glycogen accumulation. (nih.gov)
  • Enzyme replacement therapy (ERT), based on repeated intravenous (i.v.) infusions of recombinant human GAA (rhGAA), represents the only available treatment for PD. (nih.gov)
  • Previous work in mammalian models reported altered lysosomal enzyme activity due to mutation or loss of CLN5 . (frontiersin.org)
  • One common strategy comprises the identification of effective and selective competitive inhibitors that may serve to stabilize the proper folding of the mutated enzyme, either during maturation and trafficking to, or residence in, endo-lysosomal compartments. (hal.science)
  • A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen , which serves as a store of glucose in the body, through glucosyltransferase and glucosidase activity. (wikidoc.org)
  • Glucosyltransferase and glucosidase are performed by a single enzyme in mammals, yeast, and some bacteria, but by two distinct enzymes in E. coli and other bacteria, complicating nomenclature. (wikidoc.org)
  • When glucosyltransferase and glucosidase are catalyzed by distinct enzymes, "glycogen debranching enzyme" usually refers to the glucosidase enzyme . (wikidoc.org)
  • l-NBDNJ is able to enhance lysosomal α-glucosidase levels in Pompe disease fibroblasts, either when administered singularly or when coincubated with the recombinant human α-glucosidase. (ox.ac.uk)
  • Genetic mutations in a particular lysosomal glycosidase may result in accumulation of its particular substrate, which may cause diverse lysosomal storage disorders. (hal.science)
  • This compound prevents lysosomal glycolipid storage and offers a novel therapeutic approach for the management of this and other glycolipid storage disorders. (ox.ac.uk)
  • In E. coli , Glucose transfer is performed by 4-alpha-glucanotransferase, a 78.5 kDa protein coded for by the gene malQ. (wikidoc.org)
  • In particular, we identified a class of N-alkyldeoxynojirimycins that inhibit GAA, but not GBA1, and that may form the starting point for the development of pharmacological chaperone therapeutics for the lysosomal glycogen storage disease that results from genetic deficiency in GAA: Pompe disease. (hal.science)
  • The imino sugar deoxynojirimycin and its alkylated derivatives are inhibitors of the N-linked oligosaccharide processing enzymes alpha-glucosidase I and II. (ox.ac.uk)
  • Thus the debranching enzymes, transferase and α-1,6- glucosidase converts the branched glycogen structure into a linear one, paving the way for further cleavage by phosphorylase. (wikidoc.org)
  • In E. coli and other bacteria, glucosyltransferase and glucosidase functions are performed by two distinct enzymes. (wikidoc.org)
  • Notably, cln5 - cells displayed reduced β-hexosaminidase activity, which aligns with previous work showing that D. discoideum Cln5 and human CLN5 can cleave the substrate acted upon by β-hexosaminidase. (frontiersin.org)
  • Lysosomal exoglycosidases are responsible for processing endocytosed glycans from the non-reducing end to produce the corresponding monosaccharides. (hal.science)
  • These compounds are glucose analogues and have the potential to inhibit both glucosidases and glucosyltransferases. (ox.ac.uk)
  • Amylo-α-1,6-glucosidase ( EC 3.2.1.33 ), or glucosidase , cleaves the remaining alpha-1,6 linkage, producing glucose and a linear chain of glycogen. (wikidoc.org)
  • The NCLs, commonly referred to as Batten disease, are a family of neurodegenerative lysosomal storage diseases that affect all ages and ethnicities globally. (frontiersin.org)
  • N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease. (ox.ac.uk)
  • We developed and applied fluorescent activity-based probes reporting on either human GH30 lysosomal glucosylceramidase (GBA1, a retaining β-glucosidase) or GH31 lysosomal retaining α-glucosidase (GAA). (hal.science)
  • Infantile-onset Pompe disease is a rare and progressive autosomal-recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). (nih.gov)
  • The emerging data from the first clinical acid alpha-glucosidase for enzyme replacement therapy trials with rhGAA suggested that the most critical factor have been major milestones in Pompe disease research. (medpdfarticles.com)
  • defining the outcome of therapy is the underlying skeletal Acid alpha-glucosidase is the enzyme responsible muscle pathology at the start of therapy. (medpdfarticles.com)
  • Traditional acid alpha-glucosidase (GAA) [2]. (medpdfarticles.com)
  • The gene coding for human lysosomal alpha-glucosidase was cloned and its structure was determined. (nih.gov)
  • Genomic organization and promoter activity of glucosidase I gene. (nih.gov)
  • Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene that encodes acid-beta-glucosidase (GlcCerase). (proteopedia.org)
  • In an ideal case, it may be possible to move approved drugs that are validated against SARS-CoV-2 in vitro directly into clinical trials, bypassing the costly and time-consuming discovery of new chemical entities and their pre-clinical evaluation in animal models that are only just being established [ 3-5 ], as well as vital phase 1 human safety testing. (silverchair.com)
  • Key among them are early diagnosis of heart disease, human resources, financing cardiac care, and political commitment. (bvsalud.org)
  • Establishing such pediatric cardiac care models will require the essential components of early diagnosis, increasing human resources, financing cardiac care, and political commitment. (bvsalud.org)
  • [5] However, lysozyme in human milk loses activity very quickly at that temperature. (cloudfront.net)