NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model
Cell Biosci. 2026 Feb 23. doi: 10.1186/s13578-026-01542-x. Online ahead of print. ABSTRACT Neuronal intranuclear inclusion disease (NIID) patients frequently exhibit ocular abnormalities, yet the pathogenic mechanisms remain unclear. Using a transgenic mouse model ubiquitously expressing NOTCH2NLC with 98GGC repeats, we revealed that polyglycine aggregates, translated from the expanded GGC repeats, predominantly localize in PAX6- and […]
Molecular Mechanism of Mitochondrial Complex I Disruption by m.14484T>C Underlying Leber Hereditary Optic Neuropathy
bioRxiv [Preprint]. 2026 Jan 30:2026.01.28.701874. doi: 10.64898/2026.01.28.701874. ABSTRACT Leber’s Hereditary Optic Neuropathy (LHON) is a rare genetic condition and severe neurological disorder characterized by dysfunctional mitochondria under extreme oxidative stress, resulting in retinal ganglion cell death and subsequent rapid bilateral loss of central vision. The m.14484T>C mutation in the ND6 subunit of mitochondrial complex I […]
Oxidative stress imbalance and cellular damage mediated by the ND4 G11778A mutation
Sci Rep. 2026 Feb 21. doi: 10.1038/s41598-026-40061-0. Online ahead of print. ABSTRACT The mechanisms underlying cellular damage induced by the mitochondrially encoded NADH dehydrogenase subunit 4 (MT-ND4) with R340H mutation caused by the variant m.11778G > A in complex I are intricate. Numerous studies indicate that mitochondria play a primary role in cellular death due […]
Mitochondrial oxidative stress to PANoptosis: Current evidence and therapeutic implications for neurological diseases
J Adv Res. 2026 Feb 19:S2090-1232(26)00156-6. doi: 10.1016/j.jare.2026.02.023. Online ahead of print. ABSTRACT BACKGROUND: Mitochondrial oxidative stress is a key driver of neurological diseases, such as Alzheimer’s disease, Parkinson’s disease, and spinal cord injury, promoting neuronal dysfunction and degeneration through multiple pathways. PANoptosis, a recently characterized regulated cell death pathway integrating pyroptotic, apoptotic, and necroptotic […]
Anti-Apoptotic and Neurite-Protective Nanomedicine Augments Embryonic Stem Cells-Derived Retinal Ganglion Cell Transplantation in Glaucoma Recovery
Adv Sci (Weinh). 2026 Feb 21:e13499. doi: 10.1002/advs.202513499. Online ahead of print. ABSTRACT Retinal ganglion cell (RGC) degeneration represents a cardinal etiology of irreversible vision loss in glaucoma, where efficacious regenerative therapies remain scarce. RGC replacement therapy holds promise for visual function restoration, yet its therapeutic efficacy is constrained by the hostile glaucomatous microenvironment, dominated […]
From Regeneration Failure to Functional Restoration: Unlocking the Neuronal-Intrinsic Regenerative Capacity as a Therapeutic Frontier for Optic Neuropathy and Glaucoma
CNS Neurosci Ther. 2026 Feb;32(2):e70800. doi: 10.1002/cns.70800. ABSTRACT BACKGROUND: Optic neuropathy encompasses ocular conditions arising from traumatic or nontraumatic damage to optic nerves, causing permanent visual impairment due to retinal ganglion cell (RGC) loss and disrupted axonal connections. Glaucomatous optic neuropathy represents the most prevalent form, affecting over 70 million individuals worldwide and causing blindness […]
Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies
Neurobiol Dis. 2026 Feb 18:107324. doi: 10.1016/j.nbd.2026.107324. Online ahead of print. ABSTRACT Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by loss of the survival motor neuron (SMN) protein. While SMA was originally viewed as a pure motor neuron disease, it is currently considered a multi-system disorder in which skeletal muscle plays a […]
Stereopsis and Vision-Related Quality of Life After Pars Plana Vitrectomy for Rhegmatogenous Retinal Detachment: A Prospective Cohort Study
Ophthalmol Ther. 2026 Feb 19. doi: 10.1007/s40123-026-01337-w. Online ahead of print. ABSTRACT INTRODUCTION: To determine whether macular involvement (on or off) at the time of rhegmatogenous retinal detachment (RRD) influences postoperative stereopsis and to explore factors associated with vision-related quality of life (VR-QoL). METHODS: In this prospective, single-centre observational cohort study conducted at the University […]
Altered Carnitine Homeostasis Modulates Hyperosmolarity-Induced Mitochondrial Dysfunction and Lipotoxicity in Human Corneal Epithelial Cells
Invest Ophthalmol Vis Sci. 2026 Feb 2;67(2):39. doi: 10.1167/iovs.67.2.39. ABSTRACT PURPOSE: Tear hyperosmolarity, a hallmark of dry eye disease (DED), contributes to corneal epithelial injury, inflammation, and mitochondrial dysfunction. This study examined the effects of hyperosmolar stress on mitochondrial carnitine metabolism in human telomerase-immortalized corneal epithelial (hTCEpi) cells and evaluated the osmoprotective potential of L-carnitine […]
Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy
Sci Adv. 2026 Feb 20;12(8):eadx7815. doi: 10.1126/sciadv.adx7815. Epub 2026 Feb 18. ABSTRACT Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy caused by OPA1 variants, leading to retinal ganglion cell (RGC) degeneration and vision loss. The mechanisms behind RGC vulnerability to mitochondrial dysfunction remain unclear. We developed a patient-specific Opa1V291D/+ knock-in mouse model to […]