Ontology highlight
ABSTRACT:
SUBMITTER: Lim JA
PROVIDER: S-EPMC7327847 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Lim Jeong-A JA Choi Su Jin SJ Gao Fengqin F Kishnani Priya S PS Sun Baodong B
Molecular therapy. Methods & clinical development 20200602
Glycogen storage disease type III (GSD III) is an inherited disorder caused by a deficiency of glycogen debranching enzyme (GDE), which results in the accumulation of abnormal glycogen (limit dextrin) in the cytoplasm of liver, heart, and skeletal muscle cells. Currently, there is no curative treatment for this disease. Gene therapy with adeno-associated virus (AAV) provides an optimal treatment approach for monogenic diseases like GSD III. However, the 4.6 kb human GDE cDNA is too large to be p ...[more]