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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2011
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3228830/
https://ncbi.nlm.nih.gov/pubmed/22144912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002396
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