Ontology highlight
ABSTRACT:
SUBMITTER: Gao Y
PROVIDER: S-EPMC5023370 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Gao Yuanzheng Y Guo Xiuming X Santostefano Katherine K Wang Yanlin Y Reid Tammy T Zeng Desmond D Terada Naohiro N Ashizawa Tetsuo T Xia Guangbin G
Molecular therapy : the journal of the American Society of Gene Therapy 20160512 8
Myotonic dystrophy type 1 (DM1) is caused by expanded Cytosine-Thymine-Guanine (CTG) repeats in the 3'-untranslated region (3' UTR) of the Dystrophia myotonica protein kinase (DMPK) gene, for which there is no effective therapy. The objective of this study is to develop genome therapy in human DM1 induced pluripotent stem (iPS) cells to eliminate mutant transcripts and reverse the phenotypes for developing autologous stem cell therapy. The general approach involves targeted insertion of polyA si ...[more]