Article
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
The Journal of investigative dermatology - 1 Sept 2017
Atanasova Velina S, Jiang Qiujie, Prisco Marco, Gruber Christina, Piñón Hofbauer Josefina, Chen Mei, Has Cristina, Bruckner-Tuderman Leena, McGrath John A, Uitto Jouni, South Andrew P
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. A total of 46% of patients with RDEB harbor at least one premature termination codon (PTC) mutation in COL7A1, and previous studies have shown that...
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