Glycogen storage Disease type III modeling using Stem cells – GlaDiS

Glycogen storage disease type III (GSDIII) is a rare genetic disorder due to mutations in AGL gene encoding the glycogen debranching enzyme (GDE). This enzyme plays a key role for the degradation of glycogen into glucose in the liver and muscles. Mutations in AGL gene lead to toxic glycogen accumulation in these organs inducing metabolic disorders during childhood and a generalized muscle weakness in adulthood. The aim of the GlaDiS project is to perform a disease modeling of GSDIII using induced pluripotent stem cells to (i) understand the mechanisms implicated in the hepatic and muscular physiopathology of GSDIII by RNA sequencing and (ii) evaluate the efficacy of pharmacological compounds to prevent glycogen accumulation in these tissues by high-throughput screening and artificial intelligence analysis.