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

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

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...

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Bibliographic Details
Main Authors: Qingqing Zhao, Yang Kong, Alec Kittredge, Yao Li, Yin Shen, Yu Zhang, Stephen H Tsang, Tingting Yang
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-06-01
Series:eLife
Subjects:
bestrophin-1 (BEST1)
retinal pigment epithelium (RPE)
gene therapy
retinal diseases
calcium-activated chloride channel (CaCC)
gain-of-function
Online Access:https://elifesciences.org/articles/67622

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