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Eighty-three percent of patients with Herlitz junctional epidermolysis bullosa (H-JEB), an inherited, incurable skin disease, harbor nonsense mutation(s) in genes encoding a structural protein (laminin 332) responsible for skin adherence. Gentamicin, a common antibiotic, was shown to induce readthrough of PTCs in various disease models. Using in vitro assays and 3D skin models, we found that H-JEB cells harboring nonsense mutations exposed to gentamicin produce full-length structural protein, deposit it correctly between skin layers, and exhibit reversal of other H-JEB\u2013associated cellular abnormalities. Our findings indicate that gentamicin may present an immediate therapy for this otherwise fatal disease and other skin disorders caused by nonsense mutations.<\/jats:p>","DOI":"10.1073\/pnas.1803154115","type":"journal-article","created":{"date-parts":[[2018,6,26]],"date-time":"2018-06-26T11:35:15Z","timestamp":1530012915000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":62,"title":["Gentamicin induces\n                    <i>LAMB3<\/i>\n                    nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa"],"prefix":"10.1073","volume":"115","author":[{"given":"Vadim","family":"Lincoln","sequence":"first","affiliation":[{"name":"Department of Dermatology, The Keck School of Medicine of University of Southern California, Los Angeles, CA 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