The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
Abstract
Aminoglycosides have previously been shown to suppress nonsense mutations, allowing translation of full-length proteins in vitro and in animal models. In the mdx mouse, where muscular dystrophy is due to a nonsense mutation in the dystrophin gene, gentamicin suppressed truncation of the protein and ameliorated the phenotype. A subset of patients with Duchenne and Becker muscular dystrophy similarly possess a nonsense mutation, causing premature termination of dystrophin translation. Four such patients, with various stop codon sequences, were treated once daily with intravenous gentamicin at 7.5 mg/kg/day for 2 weeks. No ototoxicity or nephrotoxicity was detected. Full-length dystrophin was not detected in pre- and post-treatment muscle biopsies.
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Citations
Cites
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987) · Cell · doi:10.1016/0092-8674(87)90579-4 · Cited by 4,693
Self-citation
Cited by
Rowe, S. M., Miller, S., & Sorscher, E. J. (2005) · New England Journal of Medicine · doi:10.1056/nejmra043184 · Cited by 1,398
Tuffery-Giraud, S., Béroud, C., Leturcq, F., Yaou, R. B., Hamroun, D., Michel-Calemard, L., Moizard, M.-P., Bernard, R., Cossée, M., Boisseau, P., et al. (2009) · Human Mutation · doi:10.1002/humu.20976 · Cited by 377
Effects of stretch‐activated channel blockers on [Ca2+]i and muscle damage in the mdx mouse
Yeung, E. W., Whitehead, N. P., Suchyna, T. M., Gottlieb, P. A., Sachs, F., & Allen, D. G. (2005) · The Journal of Physiology · doi:10.1113/jphysiol.2004.075275 · Cited by 271
Pharmacological strategies for muscular dystrophy
Khurana, T. S., & Davies, K. E. (2003) · Nature Reviews Drug Discovery · doi:10.1038/nrd1085 · Cited by 225
Shimizu-Motohashi, Y., Komaki, H., Motohashi, N., Takeda, S., Yokota, T., & Aoki, Y. (2019) · Journal of Personalized Medicine · doi:10.3390/jpm9010001 · Cited by 82
Metadata
- Authors
- Wagner, K. R., Hamed, S., Hadley, D. W., Gropman, A. L., Burstein, A. H., Escolar, D. M., Hoffman, E. P., & Fischbeck, K. H.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2001
- Volume
- 49
- Issue
- 6
- Pages
- 706-711
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2158494985
- Cited by
- 272
- References
- 1
- FWCI
- 4.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- Wagner, K. R., Hamed, S., Hadley, D. W., Gropman, A. L., Burstein, A. H., Escolar, D. M., Hoffman, E. P., & Fischbeck, K. H. (2001). Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Annals of Neurology. https://doi.org/10.1002/ana.1023
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