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 […]
Identifying blood mitochondrial DNA copy number as a biomarker for development of neurodegenerative diseases: Evidence from Mendelian randomization analysis
Neuroscience. 2025 Apr 2:S0306-4522(25)00274-X. doi: 10.1016/j.neuroscience.2025.04.003. Online ahead of print. ABSTRACT Mitochondrial dysfunction has been associated with neurodegenerative diseases (NDDs). This study aimed to explore the association between blood mitochondrial DNA copy number (mtDNA-CN) and development of NDDs. This study was based on two-sample Mendelian randomization (MR) analysis. The genome wide association study (GWAS) data […]