Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.

@article{Johnson2013DifferentialEO,
  title={Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.},
  author={Adiv A Johnson and Y. Lee and James Brett Stanton and Kuai Yu and Criss H Hartzell and Lihua Y. Marmorstein and Alan D. Marmorstein},
  journal={Human molecular genetics},
  year={2013},
  volume={22 23},
  pages={4688-97}
}
Mutations in bestrophin-1 (Best1) cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited retinal degenerative disease. Best1 is a homo-oligomeric anion channel localized to the basolateral surface of retinal pigment epithelial (RPE) cells. A number of Best1 mutants mislocalize in Madin-Darby canine kidney (MDCK) cells. However, many proteins traffic differently in MDCK and RPE cells, and MDCK cells do not express endogenous Best1. Thus, effects of Best1 mutations on… CONTINUE READING
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