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Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
Abstract
Duchenne and Becker muscular dystrophy are caused by defects in the dystrophin gene, and are candidates for treatment by gene therapy. We have shown previously that overexpression of a full-length dystrophin cDNA prevents the development of dystrophic symptoms in mdx mice. We show here that this functional correction can be achieved by expressing the full-length muscle isoform at a lower level than is present in control animals. Gene therapy for DMD may necessitate the use of truncated dystrophin mini-genes to accommodate the limited cloning capacity of current-generation viral delivery vectors. We have constructed both murine and human mini-genes deleted for exons 17-48, and have demonstrated that expression of either mini-gene can almost completely prevent the development of dystrophic symptoms in transgenic mdx mice. These results suggest that viral-mediated expression of moderate levels of a truncated dystrophin could be an effective treatment for DMD.
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Citations
Cited by
Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle
Blake, D. J., Weir, A., Newey, S. E., & Davies, K. E. (2002) · Physiological Reviews · doi:10.1152/physrev.00028.2001 · Cited by 1,242
Systemic delivery of genes to striated muscles using adeno-associated viral vectors
Gregorevic, P., Blankinship, M. J., Allen, J. M., Crawford, R. W., Meuse, L., Miller, D. G., Russell, D. W., & Chamberlain, J. S. (2004) · Nature Medicine · doi:10.1038/nm1085 · Cited by 620
Self-citationAminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
Barton-Davis, E. R., Cordier, L., Shoturma, D. I., Leland, S. E., & Sweeney, H. L. (1999) · Journal of Clinical Investigation · doi:10.1172/jci7866 · Cited by 585
Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy
Harper, S. Q., Hauser, M. A., DelloRusso, C., Duan, D., Crawford, R. W., Phelps, S. F., Harper, H. A., Robinson, A. S., Engelhardt, J. F., Brooks, S. V., et al. (2002) · Nature Medicine · doi:10.1038/nm0302-253 · Cited by 579
Self-citationAnimal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy
McGreevy, J. W., Hakim, C. H., McIntosh, M. A., & Duan, D. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.018424 · Cited by 512
Metadata
- Authors
- Phelps, S. F., Hauser, M. A., Cole, N. M., Rafael, J. A., Hinkle, R. T., Faulkner, J. A., & Chamberlain, J. S.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1995
- Volume
- 4
- Issue
- 8
- Pages
- 1251-1258
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1973487567
- Cited by
- 288
- References
- 0
- FWCI
- 3.08
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. https://app.cochat.ai/papers/10.1093/hmg/4.8.1251
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- Phelps, S. F., Hauser, M. A., Cole, N. M., Rafael, J. A., Hinkle, R. T., Faulkner, J. A., & Chamberlain, J. S. (1995). Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Human Molecular Genetics. https://doi.org/10.1093/hmg/4.8.1251
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