Molecular Bases of Disease
Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease
Background: Mutations in nucleotide binding domain 1 of ABCA4 cause Stargardt Disease.Results: Correctors rescue trafficking of NBD1 mutants by altering a proteostatic network of quality control proteins.Conclusion: Rescue of trafficking ABCA 4 mutants can be accomplished by correctors similar to CFTR.Significance: There is currently no treatment for Stargardt macular degeneration.
