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Article

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Acta neuropathologica communications - 27 Apr 2016

Winter Lilli, Türk Matthias, Harter Patrick N, Mittelbronn Michel, Kornblum Cornelia, Norwood Fiona, Jungbluth Heinz, Thiel Christian T, Schlötzer-Schrehardt Ursula, Schröder Rolf

Abstract excerpt

Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). In the present study we analyzed the downstream effects of PLEC mutations on plectin protein expression and localization, the structure of the extrasarcomeric desmin cytoskeleton, protein aggregate formation and mitochondrial distribution in skeletal muscle tissue...

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Share to Arrhythmias, Cardiac
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

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Source

Open in PubMed Open full text

Identifiers

PMID: 27121971
DOI: 10.1186/s40478-016-0314-7
PMCID: PMC4847350

Genes

PLEC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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