Ameliorating effect of the aldose reductase inhibitor 1-Acetyl-5-phenyl-1 H-pyrrol-3-ylacetate on galactose-induced cataract
Sci Rep. 2025 Apr 14;15(1):12759. doi: 10.1038/s41598-025-98079-9. ABSTRACT Diabetes mellitus, as a common chronic disease, easily leads to significant changes in the structure of the eye, among which diabetic cataract is particularly common. Although surgery is the main treatment for this complication, it may be accompanied by postoperative complications. Therefore, it is particularly important to […]
Overcoming radiation-induced PD-L1 and COX-2 upregulation by nitric oxide gas nanogenerator to sensitize radiotherapy of lung cancer
Biomaterials. 2025 Apr 10;321:123335. doi: 10.1016/j.biomaterials.2025.123335. Online ahead of print. ABSTRACT Currently, certain lung cancer patients exhibit resistance to radiotherapy due to reduced DNA damage under hypoxic conditions and the cytoprotective and immune-resistance effect caused by increased programmed death ligand-1 (PD-L1) and Cyclooxygenase 2 (COX-2) expression after radiotherapy. At present, existing nanoparticles or drugs could […]
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model
Clin Genet. 2025 Apr 10. doi: 10.1111/cge.14745. Online ahead of print. ABSTRACT Infantile Cerebellar-Retinal Degeneration (ICRD) is an autosomal recessive neuro-disability associated with hypotonia, seizures, optic atrophy, and retinal degeneration. Recessive variants of the mitochondrial aconitase gene (ACO2) are a known cause of ICRD. Here, we present a paediatric male patient with ICRD, where whole […]
Corrigendum to “Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction” [Molecular Genetics and Metabolism 144 (2025); 109049]
Mol Genet Metab. 2025 Apr 9:109100. doi: 10.1016/j.ymgme.2025.109100. Online ahead of print. NO ABSTRACT PMID:40210567 | DOI:10.1016/j.ymgme.2025.109100
Intraretinal variation in disease severity in the Oatrhg mouse model of gyrate atrophy
Exp Eye Res. 2025 Apr 8:110382. doi: 10.1016/j.exer.2025.110382. Online ahead of print. ABSTRACT Gyrate atrophy is an autosomal recessive retinal degeneration caused by pathogenic variants in the gene encoding ornithine aminotransferase (OAT), a mitochondrial enzyme required for ornithine degradation. Deficiency of OAT leads to hyperornithinemia and progressive chorioretinal atrophy that results in permanent vision loss. […]
Discovery of lignans as the effective inhibitors of CES1A alleviate lipid droplets formation
J Enzyme Inhib Med Chem. 2025 Dec;40(1):2472817. doi: 10.1080/14756366.2025.2472817. Epub 2025 Apr 10. ABSTRACT ER carboxylesterase 1A (CES1A) is an important metabolic enzyme involved in lipid metabolism. Targeting the CES1A is a promising approach for diseases associated with disorders of lipid metabolism therapy. In this study, screening of 26 natural lignans, three of them were […]
Iron-Sulfur Clusters and Iron Responsive Element Binding Proteins Mediate Iron Accumulation in Corneal Endothelial Cells in Fuchs Dystrophy
Invest Ophthalmol Vis Sci. 2025 Apr 1;66(4):23. doi: 10.1167/iovs.66.4.23. ABSTRACT PURPOSE: Evidence suggests that corneal endothelial cell (CEC) death in Fuchs endothelial corneal dystrophy (FECD) is due to ferroptosis, an iron-mediated cell death. Iron-sulfur cluster (ISC)-containing aconitases and the iron responsive element binding proteins IREBP1 and IREBP2 are known mediators of iron homeostasis. This study […]
Alterations in ganglion cell and nerve fiber layer in Leber hereditary optic neuropathy across clinical stages
BMC Ophthalmol. 2025 Apr 8;25(1):183. doi: 10.1186/s12886-025-03991-3. ABSTRACT PURPOSE: LHON leads to gradual, painless, and permanent vision loss in both eyes, often associated with central scotomas. As the condition progresses, there is a decline in visual function, accompanied by noticeable structural alterations. This study focused on evaluating the clinical characteristics of patients with differing LHON […]
Nicotinamide Riboside Mitigates Retinal Degeneration by Suppressing Damaged DNA-Stimulated Microglial Activation and STING-Mediated Pyroptosis
Invest Ophthalmol Vis Sci. 2025 Apr 1;66(4):14. doi: 10.1167/iovs.66.4.14. ABSTRACT PURPOSE: Microglial activation plays a pivotal role in the pathogenesis of retinal degeneration, contributing to neuroinflammation within the retina. Previous studies identified that nicotinamide riboside (NR) mitigated light-induced retinal degeneration (LIRD) and inhibited microglial activation. The cGAS-STING signaling pathway has been recognized as a key […]
Adult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature
Neuroophthalmology. 2024 Sep 17;49(3):206-211. doi: 10.1080/01658107.2024.2405697. eCollection 2025. ABSTRACT The occurrence of Leber Hereditary Optic Neuropathy in association with dystonia is exceedingly rare. There have been only a few previously reported cases describing this clinical phenotype with the mitochondrial DNA 14459 G>A/ND6 mutation. This mutation has been described to also manifest as isolated Leber Hereditary […]