Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance

URN to cite this document:: urn:nbn:de:bvb:355-epub-351876
DOI to cite this document:: 10.5283/epub.35187

Milenkovic, Vladimir M. ; Röhrl, Elena ; Weber, Bernhard H. F.

; Strauss, Olaf

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Date of publication of this fulltext: 09 Feb 2017 15:31

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Abstract

Bestrophin-1, an integral membrane protein encoded by the BEST1 gene, is localized predominantly to the basolateral membrane of the retinal pigment epithelium. Mutations in the BEST1 gene have been associated with Best vitelliforme macular dystrophy (BMD), a central retinopathy with autosomal dominant inheritance and variable penetrance. Over 120 disease-causing mutations are known, the majority ...