Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model

Recessive dystrophic epidermolysis bullosa is a debilitating blistering skin disorder caused by loss-of-function mutations in COL7A1, which encodes type VII collagen, the main component of anchoring fibrils at the dermal−epidermal junction. Although conventional gene therapy approaches through viral...

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Detalles Bibliográficos
Autores principales: Naso, Gaetano, Gkazi, Soragia Athina, Georgiadis, Christos, Jayarajan, Vignesh, Jacków, Joanna, Fleck, Roland, Allison, Leanne, Ogunbiyi, Olumide Kayode, McGrath, John Alexander, Ilic, Dusko, Di, Wei-Li, Petrova, Anastasia, Qasim, Waseem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10193018/
https://www.ncbi.nlm.nih.gov/pubmed/37213713
http://dx.doi.org/10.1016/j.xjidi.2023.100191
Descripción
Sumario:Recessive dystrophic epidermolysis bullosa is a debilitating blistering skin disorder caused by loss-of-function mutations in COL7A1, which encodes type VII collagen, the main component of anchoring fibrils at the dermal−epidermal junction. Although conventional gene therapy approaches through viral vectors have been tested in preclinical and clinical trials, they are limited by transgene size constraints and only support unregulated gene expression. Genome editing could potentially overcome some of these limitations, and CRISPR/Cas9 has already been applied in research studies to restore COL7A1

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