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Article

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

Molecular biology of the cell - 1 Mar 2005

Gu Li-Hong, Coulombe Pierre A

Abstract excerpt

Inherited mutations in the intermediate filament (IF) proteins keratin 5 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal layer keratinocytes rupture upon trauma to the epidermis. Most mutations are missense alleles affecting amino acids located in the central alpha-helical rod domain of K5 and K14. Here, we study the properties of an unusual EBS-causing mutation in which a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15647384
DOI: 10.1091/mbc.e04-06-0498
PMCID: PMC551504

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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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