The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.

ABSTRACT: Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side chain transfer and alpha-1,6-glucose cleavage. GDE deficiency causes accumulation of phosphorylase-limited dextrin, leading to liver disorder followed by fatal myopathy. Here, we tested the capacity of the new autophagosomal activator GHF-201 to alleviate disease burden by clearing pathogenic glycogen surcharge in the GSDIII mouse model Agl^-/-. We used open field, grip strength, and rotarod tests for evaluating GHF-201's effects on locomotion, a biochemistry panel to quantify hematological biomarkers, indirect calorimetry to quantif

SUBMITTER: Mishra K 

PROVIDER: S-EPMC11352067 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature