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Publikováno v: Allen, E H A, Courtney, D G, Atkinson, S D, Moore, J E, Mairs, L, Toftgaard Poulsen, E, Schiroli, D, Maurizi, E, Cole, C, Hickerson, R P, James, J, Murgatroyd, H, Smith, F J D, MacEwen, C, Enghild, J J, Nesbit, M A, Leslie Pedrioli, D M, McLean, W H I & Moore, C B T 2016, ' Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy ', Human Molecular Genetics, vol. 25, no. 6, pp. 1176-1191 . https://doi.org/10.1093/hmg/ddw001

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 proteins keratin K3 and K12, respectively. To investigate the patho

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Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder.

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Engineering Af1521 improves ADP-ribose binding and identification of ADP-ribosylated proteins.

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