MTFR1L is a cardiac antiaging factor for maintenance of mitochondrial homeostasis
Proc Natl Acad Sci U S A. 2026 Jan 27;123(4):e2527247123. doi: 10.1073/pnas.2527247123. Epub 2026 Jan 23. ABSTRACT Mitochondrial dysfunction is a hallmark of aging and a key contributor to age-related diseases including cardiovascular disease. However, molecular pathways that safeguard mitochondrial homeostasis in the aging heart remain poorly understood. Here, we identify MTFR1L as a regulator […]
A Case Report of Unilateral OPA3-Related Dominant Optic Atrophy
Case Rep Ophthalmol. 2025 Dec 11;17(1):81-86. doi: 10.1159/000550003. eCollection 2026 Jan-Dec. ABSTRACT INTRODUCTION: Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy characterized by progressive bilateral vision loss, cecocentral visual field (VF) defects, and retinal ganglion cell degeneration. Most cases are associated with OPA1 mutations, while OPA3-related DOA is rare and typically involves both […]
Leber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report
Case Rep Ophthalmol. 2025 Dec 18;17(1):75-80. doi: 10.1159/000550116. eCollection 2026 Jan-Dec. ABSTRACT INTRODUCTION: Leber hereditary optic neuropathy (LHON) is a hereditary optic neuropathy mainly caused by mutations at 1,178, 14,484, and 3,460 in mitochondrial DNA. Patients with LHON have a higher risk of developing multiple sclerosis (MS), a coexistence also known as Harding’s syndrome. A […]
ATF4 regulates mitochondrial dysfunction and mitophagy, contributing to corneal endothelial apoptosis
Sci Rep. 2026 Jan 21. doi: 10.1038/s41598-026-36453-x. Online ahead of print. NO ABSTRACT PMID:41565836 | DOI:10.1038/s41598-026-36453-x
ABCA4-associated retinopathy complicated by didanosine-associated retinal toxicity
Am J Ophthalmol Case Rep. 2025 Dec 29;41:102509. doi: 10.1016/j.ajoc.2025.102509. eCollection 2026 Mar. ABSTRACT PURPOSE: To describe a rare case of severe central and peripheral chorioretinal atrophy in a patient with ABCA4-associated retinopathy and prior didanosine exposure. OBSERVATIONS: A 66-year-old man with a 20-year history of Stargardt disease and HIV/AIDS treated with didanosine for almost […]
Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients
Neuroimage Rep. 2026 Jan 6;6(1):100314. doi: 10.1016/j.ynirp.2025.100314. eCollection 2026 Mar. ABSTRACT INTRODUCTION: Dominant optic atrophy (DOA) is an inherited mitochondrial disorder characterized by retinal thinning and progressive visual loss. When accompanied by additional neurological or systemic features, such as progressive external ophthalmoplegia, myopathy, or deafness, it is classified as DOA-plus (DOA+). Although central nervous system […]
Editorial: Cellular contributors and consequences of protein misfolding and aggregation
Front Mol Biosci. 2026 Jan 5;12:1759495. doi: 10.3389/fmolb.2025.1759495. eCollection 2025. NO ABSTRACT PMID:41562116 | PMC:PMC12812553 | DOI:10.3389/fmolb.2025.1759495
Identification and functional characterization of a novel CRYBB1 deletion mutation causing autosomal dominant congenital cataract in a Chinese family
BMC Ophthalmol. 2026 Jan 20. doi: 10.1186/s12886-026-04624-z. Online ahead of print. NO ABSTRACT PMID:41559635 | DOI:10.1186/s12886-026-04624-z
Loss of the CoA-degrading enzyme NUDT19 exacerbates albuminuria and disrupts renal lipid homeostasis in high fat diet-fed mice
Sci Rep. 2026 Jan 20. doi: 10.1038/s41598-026-36136-7. Online ahead of print. ABSTRACT Nudix hydrolase 19 (NUDT19) is a peroxisomal enzyme that hydrolyzes CoA species at the phosphodiester bond and has been linked to peroxisomal dysfunction in the context of diabetic kidney disease. Despite its predominant expression in mouse kidneys, the physiological role of NUDT19 remains […]
Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment
Elife. 2026 Jan 20;14:RP107161. doi: 10.7554/eLife.107161. ABSTRACT Since the trabecular meshwork (TM) is central to intraocular pressure (IOP) regulation and glaucoma, a deeper understanding of its genomic landscape is needed. We present a multimodal, single-cell resolution analysis of mouse limbal cells (includes TM). In total, we sequenced 9,394 wild-type TM cell transcriptomes. We discovered three […]