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REVIEW PAPER
Ribosomal readthrough strategies for customized correction of premature termination codon mutations in skin proteins
1
Department of Pharmacy, Faculty of Medical Sciences, State University of Tetovo, North Macedonia
2
Department of Biology, Faculty of Natural Sciences, University of Tirana, Albania
3
Faculty of Science, University of Sarajevo, Bosnia and Herzegovina
4
Regional Hospital, Prizren, Kosovo
5
Human Genetics, College UBT, Faculty of Pharmacy, Prishtina, Kosovo
These authors had equal contribution to this work
Submission date: 2026-01-19
Final revision date: 2026-07-03
Acceptance date: 2026-08-10
Publication date: 2026-10-30
Corresponding author
Gazmend Temaj
University for Business and Technology/American-European University, Lipjan Kampus, 10000 Prishtina, Kosovo
University for Business and Technology/American-European University, Lipjan Kampus, 10000 Prishtina, Kosovo
KEYWORDS
TOPICS
ABSTRACT
The ribosome is a ribonucleoprotein complex that translates messenger RNA (mRNA) sequences into polypeptide chains. Ribosome biogenesis is a highly complex process with a pivotal role in many cellular processes, including proliferation, differentiation, apoptosis, development, and malignant transformation. Nonsense mutation introduces premature termination codons (PTCs), resulting in early termination of translation and synthesis of truncated proteins. Readthrough therapy aims to enhance suppression and consequently restore the production of full-length proteins. This approach has yielded considerable success over the years and has shown promising outcomes in many disorders associated with nonsense mutations; however, applying this approach to treat skin diseases remains challenging. This review summarizes current investigations on nonsense suppression strategies pertaining to epidermolysis bullosa. We focus on aminoglycosides that induce PTC readthrough, the small molecule PTC124 (ataluren), and inhibitors of nonsense-mediated mRNA decay. We also examine some emerging compounds that target the translational machinery and may become relevant for future nonsense mutation suppression therapy.
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| eISSN: | 2353-9461 |
| ISSN: | 0860-7796 |
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