Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
Johannes Bischof,Oliver Patrick March,Bernadette Liemberger,Simone A. Haas,Stefan Hainzl,Igor Petkovic,Victoria M. Leb-Reichl,J. Illmer,Evgeniia Korotchenko,Alfred Klausegger,Anna Maria Hoog,Heide-Marie Binder,Marta Robles García,Blanca Duarte,Dirk Strunk,Fernando Larcher,Julia Reichelt,Christina Guttmann-Gruber,Verena Wally,Josefina Piñón Hofbauer,Johann W. Bauer,Toni Cathomen,Thomas Kocher,Ulrich Koller +23 more
TLDR
Kocher et al. as discussed by the authors designed patient-specific Cas9-nuclease-and-nickase-based targeting strategies for reframing a common homozygous deletion in exon 52 of COL17A1 associated with a lack of full-length C17 expression.About:
This article is published in Molecular Therapy.The article was published on 2022-04-01 and is currently open access. It has received 8 citations till now. The article focuses on the topics: Medicine & Cognitive reframing.read more
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Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
Johannes Bischof,Oliver Patrick March,Bernadette Liemberger,Simone A. Haas,Stefan Hainzl,Igor Petkovic,Victoria M. Leb-Reichl,J. Illmer,Evgeniia Korotchenko,Alfred Klausegger,Anna Maria Hoog,Heide-Marie Binder,Marta Robles García,Blanca Duarte,Dirk Strunk,Fernando Larcher,Julia Reichelt,Christina Guttmann-Gruber,Verena Wally,Josefina Piñón Hofbauer,Johann W. Bauer,Toni Cathomen,Thomas Kocher,Ulrich Koller +23 more
TL;DR: Kocher et al. as discussed by the authors designed patient-specific Cas9-nuclease-and-nickase-based targeting strategies for reframing a common homozygous deletion in exon 52 of COL17A1 associated with a lack of full-length C17 expression.
Journal ArticleDOI
COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa
Igor Petkovic,Johannes Bischof,Thomas Kocher,Oliver Patrick March,Bernadette Liemberger,Stefan Hainzl,Dirk Strunk,Anna M. Raninger,Heide-Marie Binder,Julia Reichelt,Christina Guttmann-Gruber,Verena Wally,Josefina Piñón Hofbauer,Johann W. Bauer,Ulrich Koller +14 more
TL;DR:
Journal ArticleDOI
COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents
Bernadette Liemberger,Johannes Bischof,Michael Ablinger,Stefan Hainzl,Eva M. Murauer,N. Lackner,Patricia Ebner,Thomas Kocher,Alexander Nyström,Verena Wally,Elisabeth Mayr,Christina Guttmann-Gruber,Josefina Piñón Hofbauer,Johann W. Bauer,Ulrich Koller +14 more
TL;DR: In this article , a non-viral, non-invasive and efficient RNA therapy to correct mutations within COL7A1 via spliceosome-mediated RNA trans-splicing (SMaRT) was proposed.
Journal ArticleDOI
Extracellular matrix in skin diseases: The road to new therapies.
TL;DR: In this article , the authors discuss the molecular mechanisms involved in three groups of skin ECM-related diseases - genetic, autoimmune, and neoplastic - and the recent therapeutic progress and opportunities targeting ECM.
Journal ArticleDOI
A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa
Janine Zwicklhuber,Thomas Kocher,Bernadette Liemberger,Stefan Hainzl,Johannes Bischof,Dirk Strunk,Anna M. Raninger,Iris K. Gratz,Verena Wally,Christina Guttmann-Gruber,Josefina Piñón Hofbauer,Johann W. Bauer,Ulrich Koller +12 more
TL;DR: In this article , a cell line suitable for gene expression studies of the JEB-associated COL17A1 encoding type XVII collagen (C17), a transmembrane protein involved in connecting basal keratinocytes to the underlying dermis of the skin, was developed.
References
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