Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

@inproceedings{Uggenti2016RestorationOM,
  title={Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model},
  author={Carolina Uggenti and Kit Briant and Anne-Kathrin Streit and Steven Thomson and Yee Hui Koay and Richard A. Baines and Eileithyia Swanton and Forbes D Manson},
  booktitle={Disease models & mechanisms},
  year={2016}
}
Autosomal recessive bestrophinopathy (ARB) is a retinopathy caused by mutations in the bestrophin-1 protein, which is thought to function as a Ca2+-gated Cl- channel in the basolateral surface of the retinal pigment epithelium (RPE). Using a stably transfected polarised epithelial cell model, we show that four ARB mutant bestrophin-1 proteins were… CONTINUE READING