Zaharieva, I., Cirak, S., Anthony, K., Feng, L., Tasca, G., Ferlini, A., Morgan, J. and Muntoni, F. (2015) G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy. Neuromuscular Disorders. 25(Supp 2), S255. 0960-8966.
| Item Type: | Article |
|---|---|
| Abstract: | Becker (BMD) and Duchenne muscular dystrophy (DMD) are allelic disorders arising from mutations in the dystrophin gene. In-frame mutations lead to the milder BMD while out-of-frame mutations disrupt the reading frame and lead to the severe DMD with lack of dystrophin. A therapeutic strategy for skipping specific exons in dystrophin and restoring the open reading frame has been successfully applied in DMD; this “converts” the out-of-frame deletion in DMD to BMD-like in-frame deletion. Micro RNAs (miRs) are small RNA sequences that regulate gene expression post-transcriptionally. |
| Subjects: |
Q Science > QH Natural history > QH426 Genetics > QH438.7 Human genetics R Medicine > RC Internal medicine > RC925 Diseases of the musculoskeletal system > RC935.M7 Muscular dystrophy |
| Creators: | Zaharieva, I, Cirak, S, Anthony, Karen, Feng, L, Tasca, G, Ferlini, A, Morgan, J and Muntoni, F |
| Publisher: | Elsevier |
| Faculties, Divisions and Institutes: |
University Faculties, Divisions and Research Centres - OLD > Research Centre > Institute of Health and Wellbeing > Ageing Research Centre Research Centres > Centre for Health Sciences and Services Research Centres > Centre for Physical Activity and Life Sciences |
| Date: | October 2015 |
| Date Type: | Publication |
| Page Range: | S255 |
| Journal or Publication Title: | Neuromuscular Disorders |
| Volume: | 25 |
| Number: | Supp 2 |
| Language: | English |
| DOI: | https://doi.org/10.1016/j.nmd.2015.06.253 |
| ISSN: | 0960-8966 |
| Status: | Published / Disseminated |
| URI: | http://nectar.northampton.ac.uk/id/eprint/7871 |
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