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Article

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

Disease models & mechanisms - 1 Nov 2016

Uggenti Carolina, Briant Kit, Streit Anne-Kathrin, Thomson Steven, Koay Yee Hui, Baines Richard A, Swanton Eileithyia, Manson Forbes D

Abstract excerpt

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 mislocalised and subjected to proteasomal degradation. In contrast...

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Source

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Identifiers

PMID: 27519691
DOI: 10.1242/dmm.024216
PMCID: PMC5117222

Genes

BEST1
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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