Chapter title |
Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse
|
---|---|
Chapter number | 19 |
Book title |
Exon Skipping and Inclusion Therapies
|
Published in |
Methods in molecular biology, September 2018
|
DOI | 10.1007/978-1-4939-8651-4_19 |
Pubmed ID | |
Book ISBNs |
978-1-4939-8650-7, 978-1-4939-8651-4
|
Authors |
Florian Barthelemy, Dereck Wang, Stanley F. Nelson, M. Carrie Miceli, Barthelemy, Florian, Wang, Dereck, Nelson, Stanley F., Miceli, M. Carrie |
Abstract |
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene. Most deletions, duplications, or indels lead to shift of mRNA reading frame, which prevent the production of dystrophin protein. DMD is the leading fatal genetic disorder in childhood. One therapeutic strategy aims to skip one or more exons to restore reading frame to enable the production of internally truncated proteins with partial functionality. However, to date the efficiency of this strategy is suboptimal. Here we present methods for assessing exon skipping using AON alone or in combination with skip booster in the context of human DMD patient fibroblast derived myotubes and in the mdx mouse model of DMD. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 10 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 1 | 10% |
Professor | 1 | 10% |
Student > Ph. D. Student | 1 | 10% |
Student > Master | 1 | 10% |
Researcher | 1 | 10% |
Other | 1 | 10% |
Unknown | 4 | 40% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 4 | 40% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 10% |
Medicine and Dentistry | 1 | 10% |
Unknown | 4 | 40% |