Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough

Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough

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 sev...

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Bibliographic Details
Main Authors: Kathleen L. Miao, Ryan Huynh, David Woodley, Mei Chen
Format: Article
Language:English
Published: MDPI AG 2025-08-01
Series:Cells
Subjects:
aminoglycosides
epidermolysis bullosa
gentamicin
nonsense suppression therapy
premature termination codon
readthrough therapy
Online Access:https://www.mdpi.com/2073-4409/14/15/1215
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