Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease

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 occ...

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Vydáno v:J Biol Chem
Hlavní autoři: Sabirzhanova, Inna, Lopes Pacheco, Miquéias, Rapino, Daniele, Grover, Rahul, Handa, James T., Guggino, William B., Cebotaru, Liudmila
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2015
Témata:
Cell Biology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4528136/
https://ncbi.nlm.nih.gov/pubmed/26092729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.647685
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