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BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.

Mutations in the human EYA1 gene have been associated with several human diseases including branchio-oto (BO) and branchio-oto-renal (BOR) syndrome, as well as congenital cataracts and ocular anterior segment anomalies. BOR patients suffer from severe malformations of the ears, branchial arches and...

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Principais autores: Amna Musharraf, Dagmar Kruspe, Jürgen Tomasch, Birgit Besenbeck, Christoph Englert, Kathrin Landgraf
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science (PLoS) 2014-01-01
Serier:PLoS ONE
Online adgang:http://europepmc.org/articles/PMC3906160?pdf=render
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