Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

Mutations in BEST1 gene, encoding the bestrophin-1 (Best1) protein are associated with macular dystrophies. Best1 is predominantly expressed in the retinal pigment epithelium (RPE), and is inserted in its basolateral membrane. We investigated the cellular localization in polarized MDCKII cells of di...

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Detalhes bibliográficos
Main Authors: Doumanov, Jordan A., Zeitz, Christina, Gimenez, Paloma Dominguez, Audo, Isabelle, Krishna, Abhay, Alfano, Giovanna, Diaz, Maria Luz Bellido, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Sahel, José-Alain, Nandrot, Emeline F., Bhattacharya, Shomi S.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Diversity Preservation International (MDPI) 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3742291/
https://ncbi.nlm.nih.gov/pubmed/23880862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms140715121
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