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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Proc Natl Acad Sci U S A
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2018
Konular:
PNAS Plus
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller