Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy

Meesmann epithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative mutations within the KRT3 or KRT12 genes, which encode the cytoskeletal protein keratins K3 and K12, respectively. To investigate the pathomechanism of this disease, we generated and phenot...

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Publicado en:Hum Mol Genet
Main Authors: Allen, Edwin H.A., Courtney, David G., Atkinson, Sarah D., Moore, Johnny E., Mairs, Laura, Poulsen, Ebbe Toftgaard, Schiroli, Davide, Maurizi, Eleonora, Cole, Christian, Hickerson, Robyn P., James, John, Murgatroyd, Helen, Smith, Frances J.D., MacEwen, Carrie, Enghild, Jan J., Nesbit, M. Andrew, Leslie Pedrioli, Deena M., McLean, W.H. Irwin, Moore, C.B. Tara
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2016
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4764196/
https://ncbi.nlm.nih.gov/pubmed/26758872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw001
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