期刊
NATURE COMMUNICATIONS
卷 2, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms1306
关键词
-
资金
- Japan Society for the Promotion of Science
- Global Center of Excellence for Education and Research on Signal Transduction Medicine in the Coming Generation
- Health and Labour Sciences Research Grant for Research on Psychiatric and Neurological Diseases and Mental Health
- Japan Science and Technology Agency
- Ministry of Health, Labour and Welfare, Japan
- Program for Improvement of Research Environment for Young Researchers from Special Coordination Funds for Promoting Science and Technology
- Ministry of Education, Culture, Sports, Science, and Technology of Japan
- National Institute of Health
- Takeda Science Foundation
- Naito Foundation Natural Science
- Uehara Memorial Foundation
- Grants-in-Aid for Scientific Research [23591496, 22603002, 22500288] Funding Source: KAKEN
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by a loss of the dystrophin protein. Control of dystrophin mRNA splicing to convert severe DMD to a milder phenotype is attracting much attention. Here we report a dystrophinopathy patient who has a point mutation in exon 31 of the dystrophin gene. Although the mutation generates a stop codon, a small amount of internally deleted, but functional, dystrophin protein is produced in the patient cells. An analysis of the mRNA reveals that the mutation promotes exon skipping and restores the open reading frame of dystrophin. Presumably, the mutation disrupts an exonic splicing enhancer and creates an exonic splicing silencer. Therefore, we searched for small chemicals that enhance exon skipping, and found that TG003 promotes the skipping of exon 31 in the endogenous dystrophin gene in a dose-dependent manner and increases the production of the dystrophin protein in the patient's cells.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据