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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Detalles Bibliográficos
Autores principales: Walko, Gernot, Vukasinovic, Nevena, Gross, Karin, Fischer, Irmgard, Sibitz, Sabrina, Fuchs, Peter, Reipert, Siegfried, Jungwirth, Ute, Berger, Walter, Salzer, Ulrich, Carugo, Oliviero, Castañón, Maria J., Wiche, Gerhard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228830/
https://www.ncbi.nlm.nih.gov/pubmed/22144912
http://dx.doi.org/10.1371/journal.pgen.1002396

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