2013
DOI: 10.1111/exd.12112
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Imbalance of intermediate filament component keratin 14 contributes to increased stress signalling in epidermolysis bullosa simplex

Abstract: An important characteristic of epidermolysis bullosa simplex Dowling-Meara (EBS-DM) keratinocytes is the increased level of Jun N-terminal kinase (JNK) stress signalling, which is thought to contribute to the disease phenotype. In this work, we report on the dramatic up-regulation of cytokeratin 14 (K14) in the EBS-DM model cell line KEB7 at both the transcriptional and translational levels, which is noteworthy because KEB7 patient cells are heterozygous for a missense mutation (R125P) in K14. By performing fu… Show more

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Cited by 17 publications
(21 citation statements)
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References 16 publications
(12 reference statements)
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“…EB Simplex and Dystrophic EB are two common types of EB because of mutations in the gene of keratins 5 or 14 (EB Simplex) and type VII collagen (Dystrophic EB) (18,(23)(24)(25).…”
Section: Discussionmentioning
confidence: 99%
“…EB Simplex and Dystrophic EB are two common types of EB because of mutations in the gene of keratins 5 or 14 (EB Simplex) and type VII collagen (Dystrophic EB) (18,(23)(24)(25).…”
Section: Discussionmentioning
confidence: 99%
“…Some features of the K14 mutations phenotype, however, seem to suggest that there are possible non-mechanical mechanisms involved. The R125P K14 mutation elicits JNK signaling 22 . Mutant K14 increases TNFα secretion and sensitivity 23 .…”
Section: Keratins Mechanical Is Not Mechanisticmentioning
confidence: 99%
“…These differences suggest that the mechanism of action of TMAO may be dependent on the mutations of the affected cells (7,8) or on the concentration of TMAO (5).…”
Section: Resultsmentioning
confidence: 99%