Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa

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 chall...

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Veröffentlicht in:	International journal of molecular sciences 2021-03, Vol.22 (7), p.3326, Article 3326
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing Antisense oligonucleotides Autoantigens - metabolism Binding sites Biochemistry & Molecular Biology Biopsy Blistering Blisters Cell Line Cell Survival Chemistry Chemistry, Multidisciplinary Collagen Collagen Type XVII Customization Epidermolysis bullosa Epidermolysis Bullosa, Junctional - genetics Epidermolysis Bullosa, Junctional - metabolism Epidermolysis Bullosa, Junctional - therapy Exon skipping Exons Genes Genotype Genotypes Heterogeneity Homozygote Humans Junctional epidermolysis bullosa Keratinocytes - cytology Life Sciences & Biomedicine Liposomes - chemistry Microscopy molecular therapy mRNA mRNA processing Mutation Non-Fibrillar Collagens - metabolism Oligonucleotides, Antisense - genetics Organ Culture Techniques Patients Physical Sciences Post-transcription Proteins RNA Splicing RNA, Messenger - metabolism Science & Technology Skin splice mutation type XVII collagen
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