Ask about this productRelated genes to: ABCA4 antibody
- 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 antibody
Related articles to: ABCA4 antibody
- The purpose of this study was to assess the impact of Stargardt disease (STGD) on activities of daily living and mental health, correlating patient-reported outcome (PRO) measures from the Michigan Retinal Degeneration (MRDQ) and Vision-Related Anxiety Questionnaires (MVAQs) with clinical data. - Source: PubMed
Hoang JohnsonAmiri IdenDimalanta LaurenIannaccone AlessandroZhang Alice Yang - Carrier screening identifies individuals at risk of transmitting autosomal recessive or X-linked recessive conditions, supporting informed reproductive decisions. Despite international recommendations for universal carrier screening, integration into public healthcare systems remains limited. This study evaluated the feasibility of implementing a carrier screening program in Spain's public health system. - Source: PubMed
Publication date: 2026/05/04
Marsal-Olivan AinaSerra-Juhe ClaraArtigas-Baleri AliciaBernal SaraCusco IvonAbulí AnnaBrotons CarlosRodríguez-Santiago BenjamínSurralles Jordi - To evaluate the diagnostic utility of fundus autofluorescence (FAF) imaging in identifying and characterizing phenotypically classified inherited macular dystrophies. In this way, we aim to provide methods by which eye care practitioners can link FAF imaging and other clinical results or imaging modalities to aid their clinical decision-making. - Source: PubMed
Guro MarinaWang HenriettaPhu JackPatel Nimesh BSapoznik Kaitlyn AShah HamzaKalloniatis Michael - 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