Publication

A PLEC Isoform Identified in Skin, Muscle, and Heart

Gostynska, K. B., Lemmink, H., Bremer, J., Pas, H. H., Nijenhuis, A., van den Akker, P. C., Sinke, R. J., Jonkman, M. F. & Pasmooij, A. M. G., Feb-2017, In : Journal of Investigative Dermatology. 137, 2, p. 518-522 5 p.

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  • A PLEC Isoform Identified in Skin, Muscle, and Heart

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DOI

Mutations in the PLEC gene cause basal epidermolysis bullosa simplex (EBS) in 8% of cases (Bolling et al., 2014). PLEC encodes the ubiquitously present cytolinker protein plectin, which plays an important role in the hemidesmosome by connecting keratin filaments to the underlying integrin α6β4 subunit (Andra et al., 2003; Koster et al., 2003). Plectin deficiency in skin results in intraepidermal skin cleavage in basal keratinocytes (McLean et al., 1996). In humans, eight distinct plectin isoforms have been identified arising from tissue-specific translation.
Original languageEnglish
Pages (from-to)518-522
Number of pages5
JournalJournal of Investigative Dermatology
Volume137
Issue number2
Early online date10-Dec-2016
Publication statusPublished - Feb-2017

    Keywords

  • EPIDERMOLYSIS-BULLOSA SIMPLEX, MUSCULAR-DYSTROPHY, MUTATIONS, INTEGRIN, DEFECTS, BINDING, DOMAIN

ID: 36476705