Article
Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.
The Journal of biological chemistry - 7 Aug 2015
Sabirzhanova Inna, Lopes Pacheco Miquéias, Rapino Daniele, Grover Rahul, Handa James T, Guggino William B, Cebotaru Liudmila
Abstract excerpt
Stargardt disease is the most common form of early onset macular degeneration. Mutations in ABCA4, a member of the ATP-binding cassette (ABC) family, are associated with Stargardt disease. Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4, R1108C, and R1129C, which occur within regions of high similarity with CFTR, another ABC transporter gene, which is associated with cystic...
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