{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:30:02Z","timestamp":1790875802446,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Health and Medical Research Council of Australia","award":["APP1144159"],"award-info":[{"award-number":["APP1144159"]}]},{"name":"National Health and Medical Research Council of Australia","award":["APP1136567"],"award-info":[{"award-number":["APP1136567"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duchenne muscular dystrophy is a severe muscle wasting disease caused by mutations in the dystrophin gene (<jats:italic>dmd<\/jats:italic>). Ataluren has been approved by the European Medicines Agency for treatment of Duchenne muscular dystrophy. Ataluren has been reported to promote ribosomal read\u2010through of premature stop codons, leading to restoration of full\u2010length dystrophin protein. However, the mechanism of Ataluren action has not been fully described. To evaluate the efficacy of Ataluren on all three premature stop codons featuring different termination strengths (UAA\u00a0&gt;\u00a0UAG\u00a0&gt;\u00a0UGA), novel dystrophin\u2010deficient zebrafish were generated. Pathological assessment of the muscle by birefringence quantification, a tool to directly measure muscle integrity, did not reveal a significant effect of Ataluren on any of the analysed dystrophin\u2010deficient mutants at 3\u00a0days after fertilization. Functional analysis of the musculature at 6\u00a0days after fertilization by direct measurement of the generated force revealed a significant improvement by Ataluren only for the UAA\u2010carrying mutant <jats:italic>dmd<jats:sup>ta222a<\/jats:sup><\/jats:italic>. Interestingly however, all other analysed dystrophin\u2010deficient mutants were not affected by Ataluren, including\u00a0the <jats:italic>dmd<jats:sup>pc3<\/jats:sup><\/jats:italic> and <jats:italic>dmd<jats:sup>pc2<\/jats:sup><\/jats:italic> mutants that harbour weaker premature stop codons UAG and UGA, respectively. These in vivo results contradict reported in vitro data on Ataluren efficacy, suggesting that Ataluren might not promote read\u2010through of premature stop codons. In addition, Ataluren had no effect on dystrophin transcript levels, but mild adverse effects on wild\u2010type larvae were identified. Further assessment of N\u2010terminally truncated dystrophin opened the possibility of Ataluren promoting alternative translation codons within dystrophin, thereby potentially shifting the patient cohort applicable for Ataluren.<\/jats:p>","DOI":"10.1111\/jcmm.15319","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T10:44:48Z","timestamp":1588070688000},"page":"6680-6689","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Effect of Ataluren on dystrophin mutations"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7859-545X","authenticated-orcid":false,"given":"Joachim","family":"Berger","sequence":"first","affiliation":[{"name":"Australian Regenerative Medicine Institute Monash University Clayton Vic Australia"},{"name":"Victoria Node EMBL Australia Clayton Vic 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