Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1

BEST1 encodes Bestrophin-1 (Best1), a homo-oligomeric, integral membrane protein localized to the basolateral plasma membrane of the retinal pigment epithelium. Mutations in BEST1 cause five distinct retinal degenerative diseases, including adult vitelliform macular dystrophy (AVMD), autosomal reces...

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Detalhes bibliográficos
Main Authors: Johnson, Adiv A., Lee, Yong-Suk, Chadburn, Andrew J., Tammaro, Paolo, Manson, Forbes D., Marmorstein, Lihua Y., Marmorstein, Alan D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4123461/
https://ncbi.nlm.nih.gov/pubmed/24560797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2014.02.006
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