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RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

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Journal of Genetics and Genomics 2024年第12期51卷 1389-1403页

作者： Ji-Won Park tae-ik choi tae-Yoon Kim Yu-Ri Lee Dilan Wellalage Don Jaya K.George-Abraham Laurie A.Robak Cristina C.Trandafir Pengfei Liu Jill A.Rosenfeld tae Hyeong Kim Florence Petit Yoo-Mi Kim Chong Kun Cheon Yoonsung Lee Cheol-Hee Kim Department of Biology Chungnam National University Department of Pediatrics The University of Texas at Austin Dell Medical School Department of Molecular and Human Genetics Baylor College of Medicine Baylor Genetics Laboratories Department of Pediatrics Kyung Hee University Hospital at Gangdong Univ.Lille CHU LilleClinique de g en etique Guy Fontaine Department of Pediatrics Chungnam National University Sejong Hospital Department of Pediatrics Pusan National University Children’s Hospital Research Institute for Convergence of Biomedical Science and Technology Pusan National University Yangsan Hospital Clinical Research Institute Kyung Hee University Hospital at GangdongSchool of MedicineKyung Hee University

Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23,characterized by intellectual disability,distinctive craniofacial and dental features,and cardiovascular *** studies have explored the roles of individual genes within these microdeletions in contributing to WS ***,we report five patients with WS with 1.4 Mb-1.5 Mb microdeletions that include RFC2,as well as one patient with a 167-kb microdeletion involving RFC2 and six patients with intragenic variants within *** investigate the potential involvement of RFC2 in WS pathogenicity,we generate a rfc2 knockout (KO) zebrafish using CRISPR-Cas9 ***,we generate a KO zebrafish of its paralog gene,rfc5,to better understand the functions of these RFC genes in development and *** rfc2 and rfc5 KO zebrafish exhibit similar phenotypes reminiscent of WS,including small head and brain,jaw and dental defects,and vascular ***-seq analysis reveals that genes associated with neural cell survival and differentiation are specifically affected in rfc2 KO *** addition,heterozygous rfc2 KO adult zebrafish demonstrate an anxiety-like behavior with increased social *** results suggest that RFC2 may contribute to the pathogenicity of WS,as evidenced by the zebrafish model.

关键词： Williams syndrome RFC2 RFC5 Zebrafish Knockout CRISPR-Cas9

A taxonomic review of the genus Miaenia Pascoe, 1864(Coleoptera: Cerambycidae) from South Korea with a new record of M. tonsa(Bates)

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Journal of Forestry Research 2018年第3期29卷 822-829页

作者： ik Je choi tae Sung Kwon Jongok Lim Silkworm and Insect Management Center Gyeongsangbuk-do Agricultural Resource Management Institute Forest Insect Pests and Disease Division Korea Forest Research Institute Division of Forest Biodiversity Korea National Arboretum

The cerambycid genus Miaenia Pascoe(Coleoptera: Cerambycoidea) of South Korea is taxonomically reviewed. Two species, Miaenia fasciata fasciata(Matsushita) and Miaenia maritima Tsherepanov have been recorded. In this paper, M. tonsa(Bates) is added to the Korean cerambycid fauna for the first time. A key to Korean Miaenia species, re-description and diagnostic illustrations, including male genitalia for each species, are provided.

关键词： Acanthocinini Cerambycidae Miaenia New species South Korea Taxonomy

Therapeutic potential of exercise-hormone irisin in Alzheimer's disease

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Neural Regeneration Research 2025年第6期20卷 1555-1564页

作者： Eunhee Kim Rudolph ETanzi Se Hoon choi Genetics and Aging Research Unit MassGeneral Institute for Neurodegenerative DiseaseDepartment of NeurologyMassachusetts General HospitalHarvard Medical SchoolCharlestownMAUSA McCance Center for Brain Health Massachusetts General HospitalBostonMAUSA

Irisin is a myokine that is generated by cleavage of the membrane protein fibronectin type Ⅲ domain-containing protein 5(FNDC5) in response to physical exercise. Studies reveal that irisin/FNDC5 has neuroprotective functions against Alzheimer's disease, the most common form of dementia in the elderly, by improving cognitive function and reducing amyloid-β and tau pathologies as well as neuroinflammation in cell culture or animal models of Alzheimer's disease. Although current and ongoing studies on irisin/FNDC5 show promising results, further mechanistic studies are required to clarify its potential as a meaningful therapeutic target for alleviating Alzheimer's disease. We recently found that irisin treatment reduces amyloid-β pathology by increasing the activity/levels of amyloid-β-degrading enzyme neprilysin secreted from astrocytes. Herein, we present an overview of irisin/FNDC5's protective roles and mechanisms against Alzheimer's disease.

关键词： Alzheimer's disease exercise fibronectin typeⅢdomain-containing protein 5(FNDC5) irisin

Apolipoprotein A-I binding protein-mediated neuroprotection in glaucomatous neuroinflammation and neurodegeneration

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Neural Regeneration Research 2025年第5期20卷 1414-1415页

作者： Sinwoo Hwang Seunghwan choi Soo-Ho choi Keun-Young Kim Yury I.Miller Won-Kyu Ju Hamilton Glaucoma Center and Shiley Eye Institute The Viterbi Family Department of OphthalmologyUniversity of California San DiegoLa JollaCAUSA Department of Medicine University of California San DiegoLa JollaCAUSA National Center for Microscopy and Imaging Research Department of NeurosciencesUniversity of California San DiegoLa JollaCAUSA

Glaucoma is a multifactorial eye disorder that can cause vision loss and irreversible blindness,affecting individ uals aged 40 to 80 yea rs *** to the aging population,it is expected that the number of people affected by glaucoma will surpass 111 million by 2040 as the disease becomes more *** primarily contributes to optic nerve axon loss and the progressive degeneration of retinal ganglion cells (RGCs),subsequently leading to vision impairment.

关键词： irreversible pass primarily

Acute and chronic excitotoxicity in ischemic stroke and late-onset Alzheimer's disease

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Neural Regeneration Research 2025年第7期20卷 1981-1988页

作者： Shan Ping Yu Emily choi Michael QJiang Ling Wei Department of Anesthesiology Emory University School of MedicineAtlantaGAUSA Center for Visual and Neurocognitive Rehabilitation Atlanta Veterans Affairs Medical CenterDecaturGAUSA

Stroke and Alzheimer's disease are common neurological disorders and often occur in the same *** comorbidity of the two neurological disorders represents a grave health threat to older *** review presents a brief background of the development of novel concepts and their clinical *** activity of glutamatergic N-methyl-D-aspartate receptors and N-methyl-D-aspartate receptor-mediated Ca^(2+)influx is critical for neuronal *** ischemic insult induces prompt and excessive glutamate release and drastic increases of intracellular Ca^(2+)mainly via N-methyl-D-aspartate receptors,particularly of those at the extrasynaptic *** Ca^(2+)-evoked neuronal cell death in the ischemic core is dominated by necrosis within a few hours and days known as acute ***,mild but sustained Ca^(2+)increases under neurodegenerative conditions such as in the distant penumbra of the ischemic brain and early stages of Alzheimer's disease are not immediately toxic,but gradually set off deteriorating Ca^(2+)-dependent signals and neuronal cell loss mostly because of activation of programmed cell death *** on the Ca^(2+)hypothesis of Alzheimer's disease and recent advances,this Ca^(2+)-activated“silent”degenerative excitotoxicity evolves from years to decades and is recognized as a unique slow and chronic *** N-methyl-D-aspartate receptor subunit GluN3A,primarily at the extrasynaptic site,serves as a gatekeeper for the N-methyl-D-aspartate receptor activity and is neuroprotective against both acute and chronic *** stroke and Alzheimer's disease,therefore,share an N-methyl-D-aspartate receptor-and Ca^(2+)-mediated mechanism,although with much different time *** is thus proposed that early interventions to control Ca^(2+)homeostasis at the preclinical stage are pivotal for individuals who are susceptible to sporadic late-onset Alzheimer's disease and Alzheimer's disease-related

关键词： Ca^(2+)hypothesis cognitive deficits hyperactivity late-onset Alzheimer's disease neurodegeneration N-methyl-D-aspartate receptors N-methyl-D-aspartate receptor subunits pathogenesis preventive treatment

High mobility group box 1 in the central nervous system:regeneration hidden beneath inflammation

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Neural Regeneration Research 2025年第1期20卷 107-115页

作者： Hanki Kim Bum Jun Kim Seungyon Koh Hyo Jin Cho Xuelian Jin Byung Gon Kim Jun Young choi Department of Brain Science Ajou University School of MedicineSuwonSouth Korea Department of Biomedical Sciences Ajou University Graduate School of MedicineSuwonSouth Korea Department of Neurology Ajou University School of MedicineSuwonSouth Korea Department of Geriatrics The Affiliated Suqian First People’s Hospital of Nanjing Medical UniversitySuqianJiangsu ProvinceChina

High-mobility group box 1 was first discovered in the calf thymus as a DNA-binding nuclear protein and has been widely studied in diverse fields,including neurology and ***-mobility group box 1 in the extracellular space functions as a pro-inflammatory damage-associated molecular pattern,which has been proven to play an important role in a wide variety of central nervous system disorders such as ischemic stroke,Alzheimer’s disease,frontotemporal dementia,Parkinson’s disease,multiple sclerosis,epilepsy,and traumatic brain *** drugs that inhibit high-mobility group box 1 as a damage-associated molecular pattern,such as glycyrrhizin,ethyl pyruvate,and neutralizing anti-high-mobility group box 1 antibodies,are commonly used to target high-mobility group box 1 activity in central nervous system *** it is commonly known for its detrimental inflammatory effect,high-mobility group box 1 has also been shown to have beneficial pro-regenerative roles in central nervous system *** this narrative review,we provide a brief summary of the history of high-mobility group box 1 research and its characterization as a damage-associated molecular pattern,its downstream receptors,and intracellular signaling pathways,how high-mobility group box 1 exerts the repair-favoring roles in general and in the central nervous system,and clues on how to differentiate the pro-regenerative from the pro-inflammatory *** targeting high-mobility group box 1 in the central nervous system may benefit from differentiating between the two functions rather than overall suppression of high-mobility group box 1.

关键词： central nervous system damage-associated molecular pattern ethyl pyruvate glycyrhizzin high mobility group box 1 inflammation neural stem cells neurodevelopment oligodendrocyte progenitor cells redox status regeneration

Comparative toxicity of silver nanoparticles and silver ions to Escherichia coli

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Journal of Environmental Sciences 2018年第4期30卷 50-60页

作者： Yoojin choi Hyun-A Kim Kyoung-Woong Kim Byung-tae Lee Department of Chemical and Biomolecular Engineering (BK21 Plus Program) Korea Advanced Institute of Science and Technology (KAIST) School of Earth Sciences and Environmental Engineering Gwangju Institute of Science and Technology (GIST)

With the increase in silver（Ag）-based products in our lives, it is essential to test the potential toxicity of silver nanoparticles（Ag NPs） and silver ions（Ag ions） on living organisms under various conditions. Here, we investigated the toxicity of Ag NPs with Ag ions to Escherichia coli K-12 strain under various conditions. We observed that both Ag NPs and Ag ions display antibacterial activities, and that Ag ions had higher toxicity to E. coli K-12 strain than Ag NPs under the same concentrations. To understand the toxicity of Ag NPs at a cellular level, reactive oxygen species（ROS） enzymes were detected for use as antioxidant enzymatic biomarkers. We have also studied the toxicity of Ag NPs and Ag ions under various coexistence conditions including： fixed total concentration, with a varied the ratio of Ag NPs to Ag ions; fixed the Ag NPs concentration and then increased the Ag ions concentration; fixed Ag ions concentration and then increasing the Ag NPs *** to Ag NPs and Ag ions clearly had synergistic toxicity; however, decreased toxicity（for a fixed Ag NPs concentration of 5 mg/L, after increasing the Ag ions concentration） to E. coli K-12 strain. Ag NPs and Ag ions in the presence of L-cysteine accelerated the bacterial cell growth rate, thereby reducing the bioavailability of Ag ions released from Ag NPs under the single and coexistence conditions. Further works are needed to consider this potential for Ag NPs and Ag ions toxicity across a range of environmental *** Significance Statement： As silver nanoparticles（Ag NPs）-based products are being broadly used in commercial industries, an ecotoxicological understanding of the Ag NPs being released into the environment should be further considered. Here, we investigate the comparative toxicity of Ag NPs and silver ions（Ag ions） to Escherichia coli K-12 strain, a representative ecotoxicological bioreporter. This study showed that toxicities of Ag NPs and Ag ions to E. coli

关键词： Nanotoxicity Silver nanoparticles Silver ions Coexist condition Escherichia coli

Low-intensity treadmill exercise and/or bright light promote neurogenesis in adult rat brain

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Neural Regeneration Research 2013年第10期8卷 922-929页

作者： Sung Jin Kwon Jeongsook Park So Yun Park Kwang Seop Song Sun tae Jung So Bong Jung ik Ryeul Park Wan Sung choi Sun Ok Kwon Department of Physical Education Gyeongsang National University Department of Anatomy and Neurobiology Medical Research Center for Neural DysfunctionInstitute of Health ScienceSchool of MedicineGyeongsang National University Department of Liberal Arts Gyeongnam National University of Science and Technology

The hippocampus is a brain region responsible for learning and memory functions. The purpose of this study was to investigate the effects of low-intensity exercise and bright light exposure on neurogenesis and brain-derived neurotrophic factor expression in adult rat hippocampus. Male Sprague-Dawley rats were randomly assigned to control, exercise, light, or exercise ＋ light groups （n = 9 per group）. The rats in the exercise group were subjected to treadmill exercise （5 days per week, 30 minutes per day, over a 4-week period）, the light group rats were irradiated （5 days per week, 30 minutes per day, 10 000 Ix, over a 4-week period）, the exercise ＋ light group rats were subjected to treadmill exercise in combination with bright light exposure, and the control group rats remained sedentary over a 4-week period. Compared with the control group, there was a significant increase in neurogenesis in the hippocampal dentate gyrus of rats in the exercise, light, and exercise ＋ light groups. Moreover, the expression level of brain-derived neurotrophic factor in the rat hippocampal dentate gyrus was significantly higher in the exercise group and light group than that in the control group. Interestingly, there was no significant difference in brain-derived neurotrophic factor expression between the control group and exercise ＋ light group. These results indicate that low-intensity treadmill exercise （first 5 minutes at a speed of 2 m/min, second 5 minutes at a speed of 5 m/min, and the last 20 minutes at a speed of 8 m/min） or bright-light exposure therapy induces positive biochemical changes in the brain. In view of these findings, we propose that moderate exercise or exposure to sunlight during childhood can be beneficial for neural development.

关键词： neural regeneration neurogenesis neurorehabilitation exercise bright light brain-derivedneurotrophic factor hippocampus childhood grants-supported paper neuroregeneration

Dyna-QUF:Dyna-Q based univector field navigation for autonomous mobile robots in unknown environments

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Journal of Central South University 2013年第5期20卷 1178-1188页

作者： VIET Hoang-huu choi Seung-yoon CHUNG tae-choong Department of Computer Engineering Kyung Hee University

A novel approach was presented to solve the navigation problem of autonomous mobile robots in unknown environments with dense obstacles based on a univector field method. In an obstacle-free environment, a robot is ensured to reach the goal position with the desired posture by following the univector field. Contrariwise, the univector field cannot guarantee that the robot will avoid obstacles in environments. In order to create an intelligent mobile robot being able to perform the obstacle avoidance task while following the univector field, Dyna-Q algorithm is developed to train the robot in learning moving directions to attain a collision-free path for its navigation. Simulations on the computer as well as experiments on the real world prove that the proposed algorithm is efficient for training the robot in reaching the goal position with the desired final orientation.

关键词： Dyna-Q mobile robot reinforcement learning univector field