A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III

• Published in: The Journal of clinical investigation Vol. 134; no. 2; pp. 1 - 14
• Main Authors: Gardin, Antoine, Rouillon, Jérémy, Montaivo-Romera, Valle, Rossiaud, Lucille, Vidal, Patrice, Launay, Romain, Vie, Mallaury, Benchekroun, Youssef Krimi, Cosette, Jérémie, Bertin, Bérangére, La Bella, Tiziana, Dubreuil, Guillaume, Nozi, Justine, Jauze, Louisa, Fragnoud, Romain, Daniele, Nathalie, Van Wittenberghe, Laetitia, Esque, Jérémy, André, Isabelle, Nissan, Xavier, Hoch, Lucile, Ronzitti, Giuseppe
• Format: Journal Article
• Language: English
• Published: Ann Arbor American Society for Clinical Investigation 01.01.2024
• Subjects: Cardiac muscle; Clinical trials; Cytomegalovirus; Disease; Enzymes; Gene therapy; Genotype & phenotype; Glycogen; Heart; Hypoglycemia; Inborn errors of metabolism; Liver cirrhosis; Metabolism; Molecular modelling; Muscle strength; Musculoskeletal system; Mutation; Phenotypes; Proteins; Skeletal muscle; Storage diseases; Transgenes; Vectors (Biology)

Glycogen storage disease type III (CSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations of the AGŁ gene encoding for the glycogen debranching enzyme (CDE). No curative treatment exists for CSDIII. The 4.6 kb CDE cDNA represents the major technical...