{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rossiaud L"],"funding":["Agence Nationale de la Recherche (French National Research Agency)"],"pagination":["173"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11997124"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_abstract":["Glycogen storage disease type III (GSDIII) is a rare genetic disorder leading to abnormal glycogen storage in the liver and skeletal muscle. In this study, we conducted a comparative gene expression analysis of several in vitro and in vivo models and identified galectin-3 as a potential biomarker of the disease. Interestingly, we also observed a significant decrease in galectin-3 expression in mice treated with an AAV gene therapy. Finally, galectin-3 expression was studied in muscle biopsies of GSDIII patients, confirming its increase in patient tissue. Beyond the identification of this novel biomarker, our study offers a new perspective for future therapeutic developments."],"journal":["Cell death discovery"],"pubmed_title":["Galectin-3: a novel biomarker of glycogen storage disease type III."],"pmcid":["PMC11997124"],"funding_grant_id":["ANR-22-CE17-0031"],"pubmed_authors":["Rossiaud L","Ronzitti G","Miagoux Q","Reiss O","Malfatti E","Polveche H","Jauze L","Nissan X","Benabides M","Jarrige M","Laforet P","Hoch L"],"additional_accession":[]},"is_claimable":false,"name":"Galectin-3: a novel biomarker of glycogen storage disease type III.","description":"Glycogen storage disease type III (GSDIII) is a rare genetic disorder leading to abnormal glycogen storage in the liver and skeletal muscle. In this study, we conducted a comparative gene expression analysis of several in vitro and in vivo models and identified galectin-3 as a potential biomarker of the disease. Interestingly, we also observed a significant decrease in galectin-3 expression in mice treated with an AAV gene therapy. Finally, galectin-3 expression was studied in muscle biopsies of GSDIII patients, confirming its increase in patient tissue. Beyond the identification of this novel biomarker, our study offers a new perspective for future therapeutic developments.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-07-15T08:54:20.328Z","creation":"2025-07-10T03:08:31.22Z"},"accession":"S-EPMC11997124","cross_references":{"pubmed":["40229243"],"doi":["10.1038/s41420-025-02452-6"]}}