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Article

Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations.

eLife - 1 Jun 2021

Zhao Qingqing, Kong Yang, Kittredge Alec, Li Yao, Shen Yin, Zhang Yu, Tsang Stephen H, Yang Tingting

Abstract excerpt

Genetic mutation of the human BEST1 gene, which encodes a Ca2+-activated Cl- channel (BEST1) predominantly expressed in retinal pigment epithelium (RPE), causes a spectrum of retinal degenerative disorders commonly known as bestrophinopathies. Previously, we showed that BEST1 plays an indispensable role in generating Ca2+-dependent Cl- currents in human RPE cells, and the deficiency of BEST1 function in...

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Identifiers

PMID: 34061021
DOI: 10.7554/eLife.67622
PMCID: PMC8169119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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