Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca2+-dependent Cl- currents in human RPE

Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca2+-dependent Cl- currents in human RPE

Mutations in the human BEST1 gene lead to retinal degenerative diseases displaying progressive vision loss and even blindness. BESTROPHIN1, encoded by BEST1, is predominantly expressed in retinal pigment epithelium (RPE), but its physiological role has been a mystery for the last two decades. Using...

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Bibliographic Details
Main Authors: Yao Li, Yu Zhang, Yu Xu, Alec Kittredge, Nancy Ward, Shoudeng Chen, Stephen H Tsang, Tingting Yang
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2017-10-01
Series:eLife
Subjects:
calcium-activated chloride channel (CaCC)
BESTROPHIN1
BEST1
retinal pigment epithelium (RPE)
retinal diseases
patient-specific iPSC-RPE
Online Access:https://elifesciences.org/articles/29914

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