{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:37:03Z","timestamp":1790026623720,"version":"4.0.1"},"reference-count":101,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"Epidermolysis Bullosa Research Partnership and Epidermolysis Bullosa Medical Research Foundation","doi-asserted-by":"publisher","award":["NIH RO1 AR47981"],"award-info":[{"award-number":["NIH RO1 AR47981"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"Epidermolysis Bullosa Research Partnership and Epidermolysis Bullosa Medical Research Foundation","doi-asserted-by":"publisher","award":["RC4AR060535"],"award-info":[{"award-number":["RC4AR060535"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"Epidermolysis Bullosa Research Partnership and Epidermolysis Bullosa Medical Research Foundation","doi-asserted-by":"publisher","award":["RO1 AR33625"],"award-info":[{"award-number":["RO1 AR33625"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"Epidermolysis Bullosa Research Partnership and Epidermolysis Bullosa Medical Research Foundation","doi-asserted-by":"publisher","award":["W81XWH-1810558"],"award-info":[{"award-number":["W81XWH-1810558"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Eloxx Pharmaceuticals","award":["NIH RO1 AR47981"],"award-info":[{"award-number":["NIH RO1 AR47981"]}]},{"name":"Eloxx Pharmaceuticals","award":["RC4AR060535"],"award-info":[{"award-number":["RC4AR060535"]}]},{"name":"Eloxx Pharmaceuticals","award":["RO1 AR33625"],"award-info":[{"award-number":["RO1 AR33625"]}]},{"name":"Eloxx Pharmaceuticals","award":["W81XWH-1810558"],"award-info":[{"award-number":["W81XWH-1810558"]}]},{"name":"Congressionally Directed Medical Research Program","award":["NIH RO1 AR47981"],"award-info":[{"award-number":["NIH RO1 AR47981"]}]},{"name":"Congressionally Directed Medical Research Program","award":["RC4AR060535"],"award-info":[{"award-number":["RC4AR060535"]}]},{"name":"Congressionally Directed Medical Research Program","award":["RO1 AR33625"],"award-info":[{"award-number":["RO1 AR33625"]}]},{"name":"Congressionally Directed Medical Research Program","award":["W81XWH-1810558"],"award-info":[{"award-number":["W81XWH-1810558"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Epidermolysis Bullosa (EB) comprises a group of inherited blistering disorders caused by pathogenic variants in genes essential for skin and mucosal integrity. Nonsense mutations, which generate premature termination codons (PTCs), result in reduced or absent protein expression and contribute to severe disease phenotypes in EB. Readthrough therapies, which may continue translation past PTCs to restore full-length functional proteins, have emerged as promising approaches. This review summarizes findings from preclinical studies investigating readthrough therapies in EB models, clinical studies demonstrating efficacy in EB patients, and emerging readthrough agents with potential application to EB. Preclinical and clinical studies with gentamicin have demonstrated restored type VII collagen and laminin-332 expression, leading to measurable clinical improvements. Parallel development of novel compounds\u2014including aminoglycoside analogs (e.g., ELX-02), translation termination factor degraders (e.g., CC-90009, SRI-41315, SJ6986), tRNA post-transcriptional inhibitors (e.g., 2,6-diaminopurine, NV848), and nucleoside analogs (e.g., clitocine)\u2014has expanded the therapeutic pipeline. Although challenges remain regarding toxicity, codon specificity, and variable protein restoration thresholds, continued advances in molecular targeting and combination therapies offer the potential to establish readthrough therapies as localized or systemic treatments addressing both cutaneous and extracutaneous disease manifestations in EB.<\/jats:p>","DOI":"10.3390\/cells14151215","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T08:33:06Z","timestamp":1754555586000},"page":"1215","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough"],"prefix":"10.3390","volume":"14","author":[{"given":"Kathleen L.","family":"Miao","sequence":"first","affiliation":[{"name":"Department of Dermatology, The Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Huynh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Woodley","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.abd.2020.05.001","article-title":"Inherited Epidermolysis Bullosa: Update on the Clinical and Genetic Aspects","volume":"95","author":"Mariath","year":"2020","journal-title":"An. 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