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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764196/
https://www.ncbi.nlm.nih.gov/pubmed/26758872
http://dx.doi.org/10.1093/hmg/ddw001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764196/
https://www.ncbi.nlm.nih.gov/pubmed/26758872
http://dx.doi.org/10.1093/hmg/ddw001

Ejemplares similares