| First Author | Perkins KJ | Year | 2018 |
| Journal | FEBS Lett | Volume | 592 |
| Issue | 11 | Pages | 1856-1869 |
| PubMed ID | 29772070 | Mgi Jnum | J:265670 |
| Mgi Id | MGI:6193197 | Doi | 10.1002/1873-3468.13099 |
| Citation | Perkins KJ, et al. (2018) Alternative utrophin mRNAs contribute to phenotypic differences between dystrophin-deficient mice and Duchenne muscular dystrophy. FEBS Lett 592(11):1856-1869 |
| abstractText | Duchenne muscular dystrophy (DMD) is a fatal disorder caused by absence of functional dystrophin protein. Compensation in dystrophin-deficient (mdx) mice may be achieved by overexpression of its fetal paralogue, utrophin. Strategies to increase utrophin levels by stimulating promoter activity using small compounds are therefore a promising pharmacological approach. Here, we characterise similarities and differences existing within the mouse and human utrophin locus to assist in high-throughput screening for potential utrophin modulator drugs. We identified five novel 5'-utrophin isoforms (A',B',C,D and F) in adult and embryonic tissue. As the more efficient utrophin-based response in mdx skeletal muscle appears to involve independent transcriptional activation of conserved, myogenic isoforms (A' and F), elevating their paralogues in DMD patients is an encouraging therapeutic strategy. |
