Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a NovelBEST1Mutation | Zendy

Adiv A. Johnson | Zendy; Lori A. Bachman | Zendy; Benjamin Gilles | Zendy; Samuel D. Cross | Zendy; Kimberly E. Stelzig | Zendy; Zachary T. Resch | Zendy; Lihua Y. Marmorstein | Zendy; José S. Pulido | Zendy; Alan D. Marmorstein | Zendy

Open Access

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a NovelBEST1Mutation

Author(s) -

Adiv A. Johnson,

Lori A. Bachman,

Benjamin Gilles,

Samuel D. Cross,

Kimberly E. Stelzig,

Zachary T. Resch,

Lihua Y. Marmorstein,

José S. Pulido,

Alan D. Marmorstein

Publication year - 2015

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.15-16910

Subject(s) - induced pluripotent stem cell , patch clamp , microbiology and biotechnology , transfection , hek 293 cells , mutation , chemistry , biology , gene , biochemistry , embryonic stem cell , receptor

Mutations in BEST1, encoding bestrophin-1 (Best1), cause autosomal recessive bestrophinopathy (ARB). Encoding bestrophin-1 is a pentameric anion channel localized to the basolateral plasma membrane of the RPE. Here, we characterize the effects of the mutations R141H (CGC > CAC) and I366fsX18 (c.1098_1100+7del), identified in a patient in our practice, on Best1 trafficking, oligomerization, and channel activity.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research