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

Genetic mutation of the human BEST1 gene, which encodes a Ca(2+)-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 indispensa...

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Detalles Bibliográficos
Autores principales: Zhao, Qingqing, Kong, Yang, Kittredge, Alec, Li, Yao, Shen, Yin, Zhang, Yu, Tsang, Stephen H, Yang, Tingting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Structural Biology and Molecular Biophysics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8169119/
https://www.ncbi.nlm.nih.gov/pubmed/34061021
http://dx.doi.org/10.7554/eLife.67622

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8169119/
https://www.ncbi.nlm.nih.gov/pubmed/34061021
http://dx.doi.org/10.7554/eLife.67622

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