A PLEC Isoform Identified in Skin, Muscle, and Heart

Katarzyna B. Gostynska; Henny Lemmink; Jeroen Bremer; Hendri H. Pas; Albertine Nijenhuis; Peter C. van den Akker; Richard J. Sinke; Marcel F. Jonkman; Anna M. G. Pasmooij

doi:10.1016/j.jid.2016.09.032

A PLEC Isoform Identified in Skin, Muscle, and Heart

Katarzyna B. Gostynska^*, Henny Lemmink, Jeroen Bremer, Hendri H. Pas, Albertine Nijenhuis, Peter C. van den Akker, Richard J. Sinke, Marcel F. Jonkman, Anna M. G. Pasmooij

^*Corresponding author for this work

Research output: Contribution to journal › Letter › Academic › peer-review

8 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	518-522
Number of pages	5
Journal	Journal of Investigative Dermatology
Volume	137
Issue number	2
Early online date	10-Dec-2016
DOIs	https://doi.org/10.1016/j.jid.2016.09.032
Publication status	Published - Feb-2017

Keywords

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

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A PLEC Isoform Identified in Skin, Muscle, and Heart
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title = "A PLEC Isoform Identified in Skin, Muscle, and Heart",

abstract = "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.",

keywords = "EPIDERMOLYSIS-BULLOSA SIMPLEX, MUSCULAR-DYSTROPHY, MUTATIONS, INTEGRIN, DEFECTS, BINDING, DOMAIN",

author = "Gostynska, {Katarzyna B.} and Henny Lemmink and Jeroen Bremer and Pas, {Hendri H.} and Albertine Nijenhuis and {van den Akker}, {Peter C.} and Sinke, {Richard J.} and Jonkman, {Marcel F.} and Pasmooij, {Anna M. G.}",

year = "2017",

month = feb,

doi = "10.1016/j.jid.2016.09.032",

language = "English",

volume = "137",

pages = "518--522",

journal = "Journal of Investigative Dermatology",

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TY - JOUR

T1 - A PLEC Isoform Identified in Skin, Muscle, and Heart

AU - Gostynska, Katarzyna B.

AU - Lemmink, Henny

AU - Bremer, Jeroen

AU - Pas, Hendri H.

AU - Nijenhuis, Albertine

AU - van den Akker, Peter C.

AU - Sinke, Richard J.

AU - Jonkman, Marcel F.

AU - Pasmooij, Anna M. G.

PY - 2017/2

Y1 - 2017/2

N2 - 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.

AB - 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.

KW - EPIDERMOLYSIS-BULLOSA SIMPLEX

KW - MUSCULAR-DYSTROPHY

KW - MUTATIONS

KW - INTEGRIN

KW - DEFECTS

KW - BINDING

KW - DOMAIN

U2 - 10.1016/j.jid.2016.09.032

DO - 10.1016/j.jid.2016.09.032

M3 - Letter

C2 - 27769846

SN - 0022-202X

VL - 137

SP - 518

EP - 522

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 2

ER -

A PLEC Isoform Identified in Skin, Muscle, and Heart

Abstract

Keywords

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