A5045991725- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Zebrafish Biomedical Research Applications
- Retinoids in leukemia and cellular processes
- Glaucoma and retinal disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Retinopathy of Prematurity Studies
- Parasites and Host Interactions
- Cellular transport and secretion
- Photoreceptor and optogenetics research
- Genetic and Kidney Cyst Diseases
- Ginseng Biological Effects and Applications
- Retinal Imaging and Analysis
- Mitochondrial Function and Pathology
- Gut microbiota and health
- Neurological Disease Mechanisms and Treatments
- Advanced Glycation End Products research
- CRISPR and Genetic Engineering
- interferon and immune responses
- Gout, Hyperuricemia, Uric Acid
- Cholesterol and Lipid Metabolism
- Endoplasmic Reticulum Stress and Disease
- Tryptophan and brain disorders
- Adipokines, Inflammation, and Metabolic Diseases
- RNA regulation and disease
Glasgow Caledonian University
2015-2024
Huazhong University of Science and Technology
2023
Zhejiang Cancer Hospital
2021-2023
Shaoyang University
2020-2023
Chinese Academy of Sciences
2023
University of Chinese Academy of Sciences
2021
Chiba University
2020
University of Strathclyde
2020
Institute of Genetics and Cancer
2004-2015
University of Edinburgh
2007-2015
Mutations in the human methyl-CpG-binding protein gene MECP2 cause neurological disorder Rett syndrome and some cases of X-linked mental retardation (XLMR). We report that MeCP2 interacts with ATRX, a SWI2/SNF2 DNA helicase/ATPase is mutated ATRX (alpha-thalassemia/mental retardation, X-linked). can recruit helicase domain to heterochromatic foci living mouse cells methylation-dependent manner. Also, localization disrupted neurons Mecp2-null mice. Point mutations within methylated...
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary and did not have URAT1 defect. performed genome-wide homozygosity screen linkage analysis identified candidate gene SLC2A9, which encodes glucose 9 (GLUT9). Both homozygous SLC2A9 mutations: A missense (L75R) six affected members one family 36-kb deletion, resulting...
A primary feature of age-related macular degeneration (AMD) is the presence extracellular deposits between retinal pigment epithelium (RPE) and underlying Bruch's membrane, leading to RPE dysfunction, photoreceptor death severe visual loss. AMD accounts for about 50% blind registrations in Western countries a common, genetically complex disorder. Very little known regarding its molecular basis. Late-onset (L-ORD) an autosomal dominant disorder with striking clinical pathological similarity...
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost 20% of patients with pigmentosa. Most mutations are detected alternatively spliced RPGR-ORF15 isoform(s), which primarily but not exclusively expressed retina. We show that, addition to axoneme, protein is localized basal bodies photoreceptor connecting cilium and tip axoneme sperm flagella. Mass spectrometric analysis proteins that were immunoprecipitated from retinal axoneme-enriched fraction using an...
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are most common single cause of pigmentosa, accounting for up to 15 20% cases Caucasians. A total 240 different RPGR mutations have been reported, including 24 novel ones this work, which associated with X-linked (XLRP) (95%), cone, cone-rod dystrophy, or atrophic macular atrophy (3%), and syndromal retinal dystrophies ciliary dyskinesia hearing loss (2%). All disease-causing occur one more isoforms containing...
It is a longstanding puzzle why non-coding variants in the complement factor H (CFH) gene are more strongly associated with age-related macular degeneration (AMD) than functional coding that directly influence alternative pathway. The situation complicated by tight genetic associations across region, including adjacent CFH-related genes CFHR3 and CFHR1, which may themselves pathway contained within common deletion (CNP147) protection against AMD. unclear whether this association mediated...
Depression, a mood disorder, affects one in fifteen adults, has multiple risk factors and is associated with complicated underlying pathological mechanisms. P-coumaric acid (p-CA), phenolic acid, widely distributed vegetables, fruits mushrooms. P-CA demonstrated protective role against oxidative stress inflammation various diseases, including cardiovascular disease, diabetes cancer. In the current study, we investigated protection of p-CA depression memory impairment corticosterone...
The ORF15 isoform of RPGR (RPGRORF15) and interacting protein 1 (RPGRIP1) are mutated in a variety retinal dystrophies but their functions poorly understood. Here, we show that cultured mammalian cells both RPGRORF15 RPGRIP1 localize to centrioles. These localizations resistant the microtubule destabilizing drug nocodazole persist throughout cell cycle. also co-localize at basal bodies with primary cilia. C-terminal (C2) domain (ORF15C2) is highly conserved across 13 species, suggesting it...
Ten new and seventeen previously reported Enhanced S Cone Syndrome (ESCS) subjects were used to search for genetic heterogeneity. All diagnosed with ESCS on the basis of clinical, psychophysical and/or electroretinography testing using published criteria. Mutation analysis was performed NR2E3 nuclear receptor gene by single strand conformation direct sequencing, which revealed either homozygous (N=13) or compound heterozygous (N=11) mutations in 24 (89%), 2 (7%) no 1 subject (4%). Fifteen...
Macroautophagy/autophagy is an important intracellular mechanism for the maintenance of cellular homeostasis. Here we show that CERKL (ceramide kinase like) gene, a retinal degeneration (RD) pathogenic plays critical role in regulating autophagy by stabilizing SIRT1. In vitro and vivo, suppressing results impaired autophagy. SIRT1 one main regulators acetylation/deacetylation CERKL-depleted retinas cells, downregulated. ATG5 ATG7, 2 essential components autophagy, higher degree acetylation...
Cholesterol accumulation beneath the retinal pigment epithelium (RPE) cells is supposed to contribute pathogenesis of age-related macular degeneration (AMD). efflux genes (APOE and ABCA1) were identified as risk factors for AMD, although how cholesterol influences this lipid in sub-RPE deposits remains elusive. The 18 kDa translocator protein, TSPO, a cholesterol-binding protein implicated mitochondrial transport. Here, we investigate function TSPO from RPE cells. We demonstrate that...
Age-related macular degeneration (AMD), the most common visual disorder in elderly people, is characterized by formation of deposits beneath retinal pigment epithelium (RPE) and dysfunction RPE photoreceptor cells. The biologically active form vitamin D, 1,25-(OH)2D3 (VITD), categorized as a multifunctional steroid hormone that modulates many transcriptional processes different genes involved broad range cellular functions. Epidemiological genetic association studies demonstrate VITD may...
Diseases associated with porcine circovirus type 2 (PCV2) and pseudorabies virus (PRV) significantly affect the economy of pig farms, particularly when combined infections lead to bacterial co-infections. Antigens from variant strain gB gD proteins PCV2 (genotyped) Cap protein were mixed pattern recognition receptor (PRR) agonist FLICd as adjuvants formulated a micro-hydrogel adjuvant into PRV bivalent subunit vaccines. Twenty pigs, aged 30-35 days, divided groups A (received vaccine) B...
Abstract. Acritarchs, microfossils with an algal affinity, are of great significance for studying the origin and evolution early life on Earth. Acritarch data currently dispersed across various research institutions databases worldwide, lacking unified integration standardization. Palynodata was largest database acritarchs, containing 15 fields, 111 382 entries, 812 238 metadata items, 7385 references. However, it lacked references post-2007 excluded geographic data. Here, we collected...
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) protein cause one of most common and severe forms inherited retinal dystrophy. In spite numerous studies, precise function RPGR remains unclear, as is mechanism by which mutations degeneration. We have analysed RNA interference-mediated translational suppression [knockdown (KD)] using a model cellular system for studying formation, maintenance primary cilia (human telomerase-immortalized pigmented epithelium 1 cells). observed...
Elevated serum uric acid (UA) is associated with gout, hypertension, cardiovascular and renal disease. Hereditary hypouricemia type 1 (RHUC1) caused by mutations in the tubular UA transporter URAT1 can be complicated nephrolithiasis exercise-induced acute failure (EIARF). We have recently shown that loss-of-function homozygous of another transporter, GLUT9, cause a severe hereditary similar complications (RHUC2). Two unrelated families were clinically characterized. DNA was extracted...