Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.

doi:10.1016/j.ymthe.2022.04.020

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Article

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.

Molecular therapy : the journal of the American Society of Gene Therapy - 3 Aug 2022

Bischof Johannes, March Oliver Patrick, Liemberger Bernadette, Haas Simone Alexandra, Hainzl Stefan, Petković Igor, Leb-Reichl Victoria, Illmer Julia, Korotchenko Evgeniia, Klausegger Alfred, Hoog Anna, Binder Heide-Marie, Garcia Marta, Duarte Blanca, Strunk Dirk, Larcher Fernando, Reichelt Julia, Guttmann-Gruber Christina, Wally Verena, Hofbauer Josefina Piñón, Bauer Johann Wolfgang, Cathomen Toni, Kocher Thomas, Koller Ulrich

Abstract excerpt

Junctional epidermolysis bullosa (JEB) is a debilitating hereditary skin disorder caused by mutations in genes encoding laminin-332, type XVII collagen (C17), and integrin-α6β4, which maintain stability between the dermis and epidermis. We 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...

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Identifiers

PMID: 35490295
DOI: 10.1016/j.ymthe.2022.04.020
PMCID: PMC9372311

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