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The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease

BACKGROUND/AIMS: Mutations in ABCA4 cause Stargardt macular degeneration, which invariably ends in legal blindness. We studied two common mutants, A1038V (in NBD1) and G1961E (in NBD2), with the purpose of exploring how they interact with the cell’s quality control mechanism. The study was designed...

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Detalhes bibliográficos
Publicado no:Cell Physiol Biochem
Main Authors: Liu, Qiangni, Sabirzhanova, Inna, Bergbower, Emily Anne Smith, Yanda, Murali, Guggino, William G., Cebotaru, Liudmila
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7027368/
https://ncbi.nlm.nih.gov/pubmed/31403270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.33594/000000146
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