Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
J Clin Invest. 2023 Nov 14:e171235. doi: 10.1172/JCI171235. Online ahead of print. ABSTRACT Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), […]
Endoplasmic Reticulum Stress Disrupts Mitochondrial Bioenergetics, Dynamics and Causes Corneal Endothelial Cell Apoptosis
Invest Ophthalmol Vis Sci. 2023 Nov 1;64(14):18. doi: 10.1167/iovs.64.14.18. ABSTRACT PURPOSE: Endoplasmic reticulum (ER) and mitochondrial stress are independently associated with corneal endothelial cell (CEnC) loss in many corneal diseases, including Fuchs’ endothelial corneal dystrophy (FECD). However, the role of ER stress in mitochondrial dysfunction contributing to CEnC apoptosis is unknown. The purpose of this […]
Potential Retinal Biomarkers in Alzheimer’s Disease
Int J Mol Sci. 2023 Oct 31;24(21):15834. doi: 10.3390/ijms242115834. ABSTRACT Alzheimer’s disease (AD) represents a major diagnostic challenge, as early detection is crucial for effective intervention. This review examines the diagnostic challenges facing current AD evaluations and explores the emerging field of retinal alterations as early indicators. Recognizing the potential of the retina as a […]
Melatonin Exerts Prominent, Differential Epidermal and Dermal Anti-Aging Properties in Aged Human Eyelid Skin Ex Vivo
Int J Mol Sci. 2023 Nov 4;24(21):15963. doi: 10.3390/ijms242115963. ABSTRACT Human skin aging is associated with functional deterioration on multiple levels of physiology, necessitating the development of effective skin senotherapeutics. The well-tolerated neurohormone melatonin unfolds anti-aging properties in vitro and in vivo, but it remains unclear whether these effects translate to aged human skin ex […]
Blockade of interleukin-6 trans-signaling prevents mitochondrial dysfunction and cellular senescence in retinal endothelial cells
Exp Eye Res. 2023 Nov 11:109721. doi: 10.1016/j.exer.2023.109721. Online ahead of print. ABSTRACT Interleukin-6 (IL-6) is a multifaceted cytokine implicated in the pathogenesis of diabetic retinopathy (DR). Its activity extends through cis- and trans-signaling (TS) pathways, with cis-signaling limited to specific cell types possessing the membrane-bound IL-6 receptor, while trans-signaling broadly activates various cells without […]
Potential underlying mechanisms of ethambutol induced optic neuropathy: Evidence from in vitro to clinical studies
Food Chem Toxicol. 2023 Nov 8:114176. doi: 10.1016/j.fct.2023.114176. Online ahead of print. ABSTRACT Ethambutol is an antibiotic widely used for treatment of Mycobacterium species. Although it is safe to use in patients, the ocular toxic impact, including optic neuropathy and retinopathy, can be observed in patients using ethambutol. After discontinuation of the drug, the ocular […]
Glucose Improves the Efficacy of Photobiomodulation in Changing ATP and ROS Levels in Mouse Fibroblast Cell Cultures
Cells. 2023 Oct 27;12(21):2533. doi: 10.3390/cells12212533. ABSTRACT In this study, we tested the idea that photobiomodulation-the application of red to near infrared light (~λ = 600-1300 nm) to body tissues-is more effective in influencing cell metabolism when glucose is readily available. To this end, we used a mouse fibroblast (L-929) cell culture model and had […]
Efficacy of bioactive compounds of Chaihu () on glaucomatous optic atrophy through interleukin-6/hypoxia inducible factor-1α signal pathway
J Tradit Chin Med. 2023 Oct;43(6):1219-1226. doi: 10.19852/j.cnki.jtcm.20230915.001. ABSTRACT OBJECTIVE: To investigate the bioactive compounds of Chaihu (Radix Bupleuri Chinensis) (RB) on glaucomatous optic atrophy (GOA), and to study the pharmacological mechanism. METHODS: We collected information on the bioactive compounds of RB from the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP). Targets […]
Spatiotemporal roles of AMPK in PARP-1- and autophagy-dependent retinal pigment epithelial cell death caused by UVA
J Biomed Sci. 2023 Nov 7;30(1):91. doi: 10.1186/s12929-023-00978-4. ABSTRACT BACKGROUND: Although stimulating autophagy caused by UV has been widely demonstrated in skin cells to exert cell protection, it remains unknown the cellular events in UVA-treated retinal pigment epithelial (RPE) cells. METHODS: Human ARPE-19 cells were used to measure cell viability, mitochondrial reactive oxygen species (ROS), […]
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Genet Med. 2023 Oct 31:101013. doi: 10.1016/j.gim.2023.101013. Online ahead of print. ABSTRACT PURPOSE: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease (MMD). Case reports have also implicated specific variants in RNF213 with an early-onset form of MMD with full penetrance. We aimed […]