ArticleBiochemical and biophysical research communications2019
Functional significance of the conserved C-Terminal VFVNFA motif in the retina-specific ABC transporter, ABCA4, and its role in inherited visual disease.
Article in Biochemical and biophysical research communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.International journal of molecular sciences · 2025Review
- Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an UltrarareCells · 2024Article
- Structural and Pathogenic Impacts ofInternational journal of molecular sciences · 2023Article
- Protein modeling and in silico analysis to assess pathogenicity ofMolecular vision · 2023Article
- Article
- Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.Nature communications · 2021Article
- A review of TNP-ATP in protein binding studies: benefits and pitfalls.Biophysical reports · 2021Review
- Article
- Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The human retina-specific ATP binding cassette transporter, ABCA4, plays a significant role in the visual cycle. Mutations in the ABCA4 gene result in a broad spectrum of severe, blinding, retinal degenerative diseases, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive (ar)-retinitis pigmentosa, and ar-cone-rod dystrophy. Genetic testing frequently yields novel variants of unknown significance, making accurate prognosis and therapeutic approaches difficult. Recently, we have reported a novel variant of ABCA4 corresponding to a four-nucleotide deletion which led to a premature stop codon and loss of the last 161 amino acids, including the highly-conserved VFVNFA motif. Despite the presence of this motif among other ABCA proteins, knowledge of the functional significance of this sequence remains limited. In this study, we have conducted structural and functional analyses of recombinant ABCA4 polypeptides with altered VFVNFA motifs to evaluate the importance of this sequence. Further investigation of ABCA4 subdomain interactions, using Fluorescence Resonance Energy Transfer, demonstrated a loss of interaction between nucleotide binding domains in the absence of the VFVNFA motif.
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Registered trials
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