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Article

Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock.

Journal of cell science - 15 Nov 2002

D'Alessandro Mariella, Russell David, Morley Susan M, Davies Anthony M, Lane E Birgitte

Abstract excerpt

The intermediate filament cytoskeleton is thought to confer physical resilience on tissue cells, on the basis of extrapolations from the phenotype of cell fragility that results from mutations in skin keratins. There is a need for functional cell assays in which the impact of stress on intermedia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12376565
DOI: 10.1242/jcs.00120

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12376565-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock.PMID 12376565Read ↗

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Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition.Semantic proximity Read ↗

Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes.Semantic proximity Read ↗

Defining the properties of the nonhelical tail domain in type II keratin 5: insight from a bullous disease-causing mutation.Semantic proximity Read ↗

A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex.Semantic proximity Read ↗

Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases.Semantic proximity Read ↗

Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.Semantic proximity Read ↗

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