ABCA4
- Known as:
- ABCA4
- Catalog number:
- Y213982
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCA4
Related genes to: ABCA4
- Gene:
- ABCA4 NIH gene
- Name:
- ATP binding cassette subfamily A member 4
- Previous symbol:
- STGD1, ABCR, RP19, STGD
- Synonyms:
- FFM, ARMD2, CORD3
- Chromosome:
- 1p22.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-14
- Date modifiied:
- 2016-10-05
Related products to: ABCA4
Related articles to: ABCA4
- This case report aimed to describe the clinical presentation of a 21-year-old male patient with subacute bilateral painless vision loss, clinically consistent with Leber hereditary optic neuropathy (LHON), a mitochondrially inherited disorder and to investigate the genetic mutations associated with this condition. - Source: PubMed
Ashrafkhorasani MaryamChou BrianSadun Alfredo A - Stargardt disease type 1 (STGD1) is the most common hereditary macular degeneration. It is caused by mutations in , which result in the progressive degeneration of the retinal pigment epithelium (RPE), ultimately leading to photoreceptor loss. Despite extensive efforts, STGD1 currently lacks effective treatments. Here, we first identified mitochondrial defects in the photoreceptors of mice and STGD1 patient-derived retinal organoids. Specifically, we found reduced mitochondrial content, defective cristae morphology, and downregulation of OPA1, a critical regulator of mitochondrial integrity, demonstrating that photoreceptor defects in STGD1 also have a cell-autonomous origin, besides the RPE dysfunction. Importantly, we also demonstrated that correcting this pathological phenotype through the modulation of microRNAs 181a and b (miR-181a/b), key regulators of mitochondrial function, ameliorates the STGD1 phenotype. Indeed, genetic inactivation and adeno-associated viral vector-mediated silencing of miR-181a/b in STGD1 models restored OPA1 levels, improved mitochondrial phenotype, and reduced lipofuscin accumulation in the RPE. Our study demonstrates that mitochondrial dysfunction in photoreceptors is an important contributor to STGD1 pathology, opening promising therapeutic avenues for this disorder. - Source: PubMed
Publication date: 2026/04/15
Brillante SimonaVolpe MariagraziaDiana AnnaNegueruela SantiagoMolinari MartaSaurino RosaCipollaro EvaPolishchuk ElenaTenderini ErikaDamiano CarlaTornabene PatriziaPolishchuk RomanParenti GiancarloTarallo AntoniettaBanfi SandroTrapani IvanaCarrella SabrinaIndrieri Alessia - The purpose of this study was to characterize the clinical features, electrophysiology, and variant spectrum in ABCA4- and PRPH2-retinopathies and to identify novel electrodiagnostic biomarkers to differentiate between these two genotypes. - Source: PubMed
Heath Jeffery Rachael CThompson Jennifer ALo JohnnyVincent Andrea LPatil MinalBianco LorenzoBattaglia Parodi MaurizioZiccardi LuciaDell'Aquila CarmenBarbano LucillaTang Wei ChaoChan Choi MunBoon Camiel J FHensman JonathanChen Ta-ChingLin Chien-YuChen Pei-LungVincent AjoyTumber AnupreetHeon EliseGrigg John RJamieson Robyn VCornish Elisa ENash Benjamin MChou JeremyLamey Tina MMcLenachan SamuelRoshandel DanialFujinami KaoruChelva EnidMcLaren Terri LChen Fred K - Inherited retinal diseases (IRDs) are a group of more than 50 clinically and genetically heterogeneous diseases caused by variants in more than 300 genes. The Israeli population is composed of multiple ethnic groups with variable prevalence of IRD-causing variants. In the current study, we analyzed IRDs in different Israeli ethnic groups to establish the genetic landscape. - Source: PubMed
Shalom SapirGradstein LibePras EranValensi JohannaBirk Ohad SBlumenfeld AnatEilat AvitalMacarov MichalPoleg TomerCremers Frans P MRoosing SusannePanneman Daan MHollander NadinGoldenberg-Cohen NitzaYahalom ClaudiaBanin EyalBen-Yosef TamarSharon Dror - - Source: PubMed