ArticleThe Journal of biological chemistry2015
Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.
Article in The Journal of biological chemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 46 citations in OpenAlex.
- Update on the Management of ABCA4 Retinopathy (Stargardt Disease).Ophthalmology and therapy · 2026Review
- A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.International journal of molecular sciences · 2024Article
- Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.Human molecular genetics · 2023Article
- Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel.Molecules (Basel, Switzerland) · 2023Article
- CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.Human molecular genetics · 2022Article
- The molecular evolution of function in the CFTR chloride channel.The Journal of general physiology · 2021Article
- Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.International journal of molecular sciences · 2021Review
- Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment.International journal of molecular sciences · 2021Article
- Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.Journal of chemical information and modeling · 2021Article
- Medically Important Alterations in Transport Function and Trafficking of ABCG2.International journal of molecular sciences · 2021Review
- Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.Free neuropathology · 2021Article
- Binding mode analysis of ABCA7 for the prediction of novel Alzheimer's disease therapeutics.Computational and structural biotechnology journal · 2021Article
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.International ophthalmology · 2020Article
- Assistance for Folding of Disease-Causing Plasma Membrane Proteins.Biomolecules · 2020Review
- Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery.International journal of molecular sciences · 2020Article
- A new role for heat shock factor 27 in the pathophysiology ofAmerican journal of physiology. Gastrointestinal and liver physiology · 2020Article
- The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2019Article
- CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.Frontiers in pharmacology · 2019Review
- Rescue of CFTR NBD2 mutants N1303K and S1235R is influenced by the functioning of the autophagosome.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2018Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
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 fibrosis. We show that R1108C and R1129C are both temperature-sensitive processing mutants that engage the cellular quality control mechanism and show a strong interaction with the chaperone Hsp 27. Both mutant proteins also interact with HDCAC6 and are degraded in the aggresome. We also demonstrate that novel corrector compounds that are being tested as treatment for cystic fibrosis, such as VX-809, can rescue the processing of the ABCA4 mutants, particularly their expression at the cell surface, and can reduce their binding to HDAC6. Thus, our data suggest that VX-809 can potentially be developed as a new therapy for Stargardt disease, for which there is currently no treatment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.