Article
SQSTM1 Mutations and Glaucoma.
PloS one - 1 Jan 2016
Scheetz Todd E, Roos Ben R, Solivan-Timpe Frances, Miller Kathy, DeLuca Adam P, Stone Edwin M, Kwon Young H, Alward Wallace L M, Wang Kai, Fingert John H
Abstract excerpt
Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG) occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN) and TANK binding kinase 1 (TBK1), cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase that phosphorylates OPTN, an autophagy receptor, which...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.