{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T17:33:11Z","timestamp":1788456791047,"version":"build-2803163510"},"reference-count":137,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T00:00:00Z","timestamp":1679529600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Helga Kellerhals Foundation","award":["No. P_147200_30"],"award-info":[{"award-number":["No. P_147200_30"]}]},{"name":"Helga Kellerhals Foundation","award":["PFA149050_01"],"award-info":[{"award-number":["PFA149050_01"]}]},{"name":"Helga Kellerhals Foundation","award":["PFA149001-02"],"award-info":[{"award-number":["PFA149001-02"]}]},{"name":"Land Salzburg WISS 2025 Research Initiative Grant","award":["No. P_147200_30"],"award-info":[{"award-number":["No. P_147200_30"]}]},{"name":"Land Salzburg WISS 2025 Research Initiative Grant","award":["PFA149050_01"],"award-info":[{"award-number":["PFA149050_01"]}]},{"name":"Land Salzburg WISS 2025 Research Initiative Grant","award":["PFA149001-02"],"award-info":[{"award-number":["PFA149001-02"]}]},{"name":"Hans-Gr\u00f6ber-Stiftung Vaduz","award":["No. P_147200_30"],"award-info":[{"award-number":["No. P_147200_30"]}]},{"name":"Hans-Gr\u00f6ber-Stiftung Vaduz","award":["PFA149050_01"],"award-info":[{"award-number":["PFA149050_01"]}]},{"name":"Hans-Gr\u00f6ber-Stiftung Vaduz","award":["PFA149001-02"],"award-info":[{"award-number":["PFA149001-02"]}]},{"name":"Maestro Mandozzi Foundation Locarno\/Salzburg","award":["No. P_147200_30"],"award-info":[{"award-number":["No. P_147200_30"]}]},{"name":"Maestro Mandozzi Foundation Locarno\/Salzburg","award":["PFA149050_01"],"award-info":[{"award-number":["PFA149050_01"]}]},{"name":"Maestro Mandozzi Foundation Locarno\/Salzburg","award":["PFA149001-02"],"award-info":[{"award-number":["PFA149001-02"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Nonsense mutations trigger premature translation termination and often give rise to prevalent and rare genetic diseases. Consequently, the pharmacological suppression of an unscheduled stop codon represents an attractive treatment option and is of high clinical relevance. At the molecular level, the ability of the ribosome to continue translation past a stop codon is designated stop codon readthrough (SCR). SCR of disease-causing premature termination codons (PTCs) is minimal but small molecule interventions, such as treatment with aminoglycoside antibiotics, can enhance its frequency. In this review, we summarize the current understanding of translation termination (both at PTCs and at cognate stop codons) and highlight recently discovered pathways that influence its fidelity. We describe the mechanisms involved in the recognition and readthrough of PTCs and report on SCR-inducing compounds currently explored in preclinical research and clinical trials. We conclude by reviewing the ongoing attempts of personalized nonsense suppression therapy in different disease contexts, including the genetic skin condition epidermolysis bullosa.<\/jats:p>","DOI":"10.3390\/ijms24076101","type":"journal-article","created":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T03:50:21Z","timestamp":1679629821000},"page":"6101","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5354-240X","authenticated-orcid":false,"given":"Roland N.","family":"Wagner","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Wie\u00dfner","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Friedrich","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"},{"name":"Department of Biosciences, University of Salzburg, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3700-9864","authenticated-orcid":false,"given":"Johanna","family":"Zandanell","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannelore","family":"Breitenbach-Koller","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Salzburg, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann W.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1002\/humu.20763","article-title":"A meta-analysis of nonsense mutations causing human genetic disease","volume":"29","author":"Mort","year":"2008","journal-title":"Hum. 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