Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa

Herlitz junctional epidermolysis bullosa (H-JEB) is an incurable, devastating, and mostly fatal inherited skin disease for which there is only supportive care. H-JEB is caused by loss-of-function mutations in LAMA3, LAMB3, or LAMC2, leading to complete loss of laminin 332, the major component of anc...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Lincoln, Vadim, Cogan, Jon, Hou, Yingping, Hirsch, Michaela, Hao, Michelle, Alexeev, Vitali, De Luca, Michele, De Rosa, Laura, Bauer, Johann W., Woodley, David T., Chen, Mei
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2018
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PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6048497/
https://ncbi.nlm.nih.gov/pubmed/29946029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1803154115
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