Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.
MT: Delivery Strategies
epidermolysis bullosa
extracellular matrix
genetic diseases
readthrough therapy
skin
Journal
Molecular therapy. Nucleic acids
ISSN: 2162-2531
Titre abrégé: Mol Ther Nucleic Acids
Pays: United States
ID NLM: 101581621
Informations de publication
Date de publication:
10 Dec 2024
10 Dec 2024
Historique:
received:
12
04
2024
accepted:
05
09
2024
medline:
11
10
2024
pubmed:
11
10
2024
entrez:
11
10
2024
Statut:
epublish
Résumé
Recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) are lethal blistering skin disorders resulting from mutations in genes coding for type VII collagen (
Identifiants
pubmed: 39391765
doi: 10.1016/j.omtn.2024.102334
pii: S2162-2531(24)00221-X
pmc: PMC11465179
doi:
Types de publication
Journal Article
Langues
eng
Pagination
102334Informations de copyright
© 2024 The Author(s).
Déclaration de conflit d'intérêts
V.B. is a former employee and current shareholder of Eloxx Pharmaceuticals, which owns patents related to this paper. S.A. is a former employee of Eloxx Pharmaceuticals.