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Article

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

Journal of cellular and molecular medicine - 1 Dec 2019

Renz Patricia, Imahorn Elias, Spoerri Iris, Aushev Magomet, March Oliver P, Wariwoda Hedwig, Von Arb Sarah, Volz Andreas, Itin Peter H, Reichelt Julia, Burger Bettina

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31638346
DOI: 10.1111/jcmm.14727
PMCID: PMC6850952

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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