Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna.

Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna.

Autosomal recessive mutations in the cytolinker protein plectin account for the multisystem disorders epidermolysis bullosa simplex (EBS) associated with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and congenital myasthenia (EBS-CMS). In contrast, a dominant missense mutation leads to the...

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Autores principales: Gernot Walko, Nevena Vukasinovic, Karin Gross, Irmgard Fischer, Sabrina Sibitz, Peter Fuchs, Siegfried Reipert, Ute Jungwirth, Walter Berger, Ulrich Salzer, Oliviero Carugo, Maria J Castañón, Gerhard Wiche
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2011
Materias:
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/74beba907a72409dbfda665e77abecf1
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