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Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.

J Cell Mol Med. 2019; 
Renz P, Imahorn E, Spoerri I, Aushev M, March OP, Wariwoda H, Von Arb S, Volz A, Itin PH,, Reichelt J, Burger B.
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Mutagenesis Services Sequences encoding the ala‐ nine‐rich C‐terminus (p10_ala_c_GFP) or a premature stop (p13_ter_c_ GFP) were inserted into p2_wt_c_GFP via site‐directed mutagenesis (GenScript®)....1373+1delG) (p4_var_g_GFP) was in‐ serted via site‐directed mutagenesis (GenScript®). Get A Quote

摘要

Ichthyosis with confetti (IWC) is a genodermatosis associated with dominant-negative variants in keratin 10 (KRT10) or keratin 1 (KRT1). These frameshift variants result in extended aberrant proteins, localized to the nucleus rather than the cytoplasm. This mislocalization is thought to occur as a result of the altered carboxy (C)-terminus, from poly-glycine to either a poly-arginine or -alanine tail. Previous studies on the type of C-terminus and subcellular localization of the respective mutant protein are divergent. In order to fully elucidate the pathomechanism of IWC, a greater understanding is critical. This study aimed to establish the consequences for localization and intermediate filament formation of ... More

关键词

KRT10; alanine-rich C-terminus; arginine-rich C-terminus; carboxy terminus; ichthyosis with confetti; keratin 10; nuclear localization