Ontology highlight
ABSTRACT:
SUBMITTER: Sun B
PROVIDER: S-EPMC2670546 | biostudies-literature | 2008 Aug
REPOSITORIES: biostudies-literature
Sun Baodong B Young Sarah P SP Li Ping P Di Chunhui C Brown Talmage T Salva Maja Z MZ Li Songtao S Bird Andrew A Yan Zhen Z Auten Richard R Hauschka Stephen D SD Koeberl Dwight D DD
Molecular therapy : the journal of the American Society of Gene Therapy 20080617 8
Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid alpha-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. An adeno-associated virus 2/8 (AAV2/8) vector containing the muscle creatine kinase (MCK) (CK1) reduced glycogen content by approximately 50% in the heart and quadriceps in GAA-knockout (GAA-KO) mice; furthermore, an AAV2/8 vector containing the hybrid alpha-myosin heavy chain enhancer-/MCK enhanc ...[more]