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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Detalles Bibliográficos
Autores principales: Musharraf, Amna, Kruspe, Dagmar, Tomasch, Jürgen, Besenbeck, Birgit, Englert, Christoph, Landgraf, Kathrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906160/
https://www.ncbi.nlm.nih.gov/pubmed/24489909
http://dx.doi.org/10.1371/journal.pone.0087407

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906160/
https://www.ncbi.nlm.nih.gov/pubmed/24489909
http://dx.doi.org/10.1371/journal.pone.0087407

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