- Article
Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein
- Jordan A. Doumanov,
- Christina Zeitz,
- Paloma Dominguez Gimenez,
- Isabelle Audo,
- Abhay Krishna,
- Giovanna Alfano,
- Maria Luz Bellido Diaz,
- Veselina Moskova-Doumanova,
- Marie-Elise Lancelot and
- José-Alain Sahel
- + 2 authors
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 cel...

