Work

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

Year: 2017

Type: peer-review

Abstract: A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.

Source: eLife

DOI: 10.7554/elife.29914.028

Authors: Yao Li, Yu Zhang, Yu Xu, Alec Kittredge, Nancy Ward, Shoudeng Chen, Stephen H Tsang, Tingting Yang

Institutions: NewYork–Presbyterian Hospital, Columbia University, University of Rochester Medicine, University of Rochester, Shanghai Jiao Tong University, XinHua Hospital, Fifth Affiliated Hospital of Sun Yat-sen University

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,500

OpenAlex ID: W2987986961

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