biostudies-literatureRossiaud LAgence Nationale de la Recherche (French National Research Agency)173https://www.ebi.ac.uk/biostudies/studies/S-EPMC11997124biostudies-literatureUnknown11(1)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.Cell death discoveryGalectin-3: a novel biomarker of glycogen storage disease type III.PMC11997124ANR-22-CE17-0031Rossiaud LRonzitti GMiagoux QReiss OMalfatti EPolveche HJauze LNissan XBenabides MJarrige MLaforet PHoch LfalseGalectin-3: a novel biomarker of glycogen storage disease type III.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.2025-01-01T00:00:00Z2025 Apr2026-07-15T08:54:20.328Z2025-07-10T03:08:31.22ZS-EPMC119971244022924310.1038/s41420-025-02452-6