期刊
RARE DISEASES
卷 4, 期 1, 页码 -出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/21675511.2016.1225644
关键词
alternative splicing; Alu elements; disease modifiers; Myotonic Dystrophy Type I; pre-mRNA splicing; Stau1binding sites; Staufen1
资金
- Muscular Dystrophy Association [294865]
- Association Francaise contre les Myopathie [18285]
- Canadian Institute of Health Research via Canadian Muscular Dystrophy Association
- Rachel Fund for Myotonic Dystrophy
- University of Ottawa Brain and Mind Research Institute Center
- Translational Research Award
- Queen Elizabeth II Graduate Scholarship
- CIHR
In a recent issue of PLOS Genetics, we reported that the double-stranded RNA-binding protein, Staufen1, functions as a disease modifier in the neuromuscular disorder Myotonic Dystrophy Type I (DM1). In this work, we demonstrated that Staufen1 regulates the alternative splicing of exon 11 of the human Insulin Receptor, a highly studied missplicing event in DM1, through Alu elements located in an intronic region. Furthermore, we found that Staufen1 overexpression regulates numerous alternative splicing events, potentially resulting in both positive and negative effects in DM1. Here, we discuss our major findings and speculate on the details of the mechanisms by which Staufen1 could regulate alternative splicing, in both normal and DM1 conditions. Finally, we highlight the importance of disease modifiers, such as Staufen1, in the DM1 pathology in order to understand the complex disease phenotype and for future development of new therapeutic strategies.
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