Article
Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.
International journal of molecular sciences - 24 Mar 2021
Ablinger Michael, Lettner Thomas, Friedl Nicole, Potocki Hannah, Palmetzhofer Theresa, Koller Ulrich, Illmer Julia, Liemberger Bernadette, Hainzl Stefan, Klausegger Alfred, Reisenberger Manuela, Lambert Jo, Van Gele Mireille, Desmet Eline, Van Maelsaeke Els, Wimmer Monika, Zauner Roland, Bauer Johann W, Wally Verena
Abstract excerpt
Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes. The rarity of the disease and the heterogeneity of the underlying mutations renders therapy developments challenging. However, the high number of short in-frame exons facilitates the use of antisense oligonucleotides (AON) to...
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