iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration

Singh, Ruchira; Shen, Wei; Kuai, David; Martin, Jessica; Guo, Xiangrong; A. Smith, Molly; T. Perez, Enio; Joseph Phillips, M.; M. Simonett, Joseph; A. Wallace, Kyle; D. Verhoeven, Amelia; E. Capowski, Elizabeth; Zhang, Xiaoqing; Yin, Yingnan; Halbach, Patrick; A. Fishman, Gerald; S. Wright, Lynda; R. Pattnaik, Bikash; M. Gamm, David

doi:10.1093/hmg/dds469

Public

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration

Published in Human Molecular Genetics • Nov 8, 2012

Authors:

Ruchira Singh

Wei Shen

David Kuai

Abstract

Best disease (BD) is an inherited degenerative disease of the human macula that results in progressive and irreversible central vision loss. It is caused by mutations in the retinal pigment epithelium (RPE) gene BESTROPHIN1 (BEST1), which, through mechanism(s) that remain unclear, lead to the accumu...

Subject

Biology

Retinal pigment epithelium

Context (archaeology)

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