Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

International journal of molecular sciences - 14 Apr 2023

Cevik Senem, Biswas Subhasis B, Biswas-Fiss Esther E

Abstract excerpt

The retina-specific ATP-binding cassette transporter protein ABCA4 is responsible for properly continuing the visual cycle by removing toxic retinoid byproducts of phototransduction. Functional impairment caused by ABCA4 sequence variations is the leading cause of autosomal recessive inherited retinal disorders, including Stargardt disease, retinitis pigmentosa, and cone-rod dystrophy. To date, more than 3000...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to Cone-Rod Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Retina

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

Share to Stargardt Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 37108442
DOI: 10.3390/ijms24087280
PMCID: PMC10138569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.PMID 37108442Read ↗

Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.Semantic proximity Read ↗

Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.Semantic proximity Read ↗

Deciphering the impact of ABCA4 genetic variants of unknown significance in inherited retinal disease through computational and functional approaches.Semantic proximity Read ↗

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.Semantic proximity Read ↗

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Semantic proximity Read ↗

Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.Semantic proximity Read ↗

Pathogenic impact of ABCA4 missense variants in the structurally uncharacterized ECD1 region: implications for Stargardt diseaseSemantic proximity Read ↗

In Silico Prioritization of Variants of Uncertain Significance in ABCA4 Reveals Conserved Functional MotifsSemantic proximity Read ↗

ABCA4-Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants.Semantic proximity Read ↗

Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing.Semantic proximity Read ↗

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.Semantic proximity Read ↗

Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.