Jouni Uitto, Velina S. Atanasova, Qiujie Jiang, Andrew P. South

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Presentation transcript:

Precision Medicine for Heritable Skin Diseases—The Paradigm of Epidermolysis Bullosa Jouni Uitto, Velina S. Atanasova, Qiujie Jiang, Andrew P. South Journal of Investigative Dermatology Symposium Proceedings Volume 19, Issue 2, Pages S74-S76 (December 2018) DOI: 10.1016/j.jisp.2018.09.004 Copyright © 2018 The Authors Terms and Conditions

Figure 1 PTC mutation leads to interrupted translation, followed by ribosome disassembly, polypeptide degradation and nonsense-mediated mRNA decay. Cartoon depicts normal translation of mRNA (upper), interrupted translation as a result of PTC mutation (middle), and read-through of PTC (lower). Lower cartoon shows one possible mechanism of action for amlexanox facilitated read-though. PTC, premature termination codon. Journal of Investigative Dermatology Symposium Proceedings 2018 19, S74-S76DOI: (10.1016/j.jisp.2018.09.004) Copyright © 2018 The Authors Terms and Conditions