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genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase gene

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Journal of genetics and genomics 2014年第4期41卷 197-203页

作者： Dimitry A.Chistiakov Lyudmila M.Kuzenkova Kirill V.Savost’anov Anait K.gevorkyan Alexander A.Pushkov alexey g.nikitin Nato D.Vashakmadze Natalia V.Zhurkova Tatiana V.Podkletnova Leila S.Namazova-Baranova Alexander A.Baranove Department of Medical Nanobiotechnology Pirogov Russian State Medical University Department of Molecular and genetic Diagnostics Division of Laboratory MedicineInstitute of PediatricsResearch Center for Children’s Health Department of Psychoneurology and Psychosomatic Pathology Institute of PediatricsResearch Center for Children’s Health Institute of Preventive Pediatrics and Rehabilitation Research Center for Children’s Health Research Center for Children’s Health

Mucopolysaccharidosis type II （MPS II） is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase （IDS） gene. In this study, IDS activity in peripheral mononuclear blood monocytes （PMBCs） was measured with a fluorimetric enzyme assay. Urinary glycosaminoglycans （gAgs） were quantified using a colorimetric assay. All IDS exons and intronic flanks were bidirectionally sequenced. A total of 15 mutations （all exonic region） were found in 17 MPS II patients. In this cohort of MPS II patients, all alterations in the IDS gene were caused by point nucleotide substitutions or small deletions. Mutations ***88His and ***172＊ occurred twice. All mu- tations were inherited except for ***489Alafs＊7, a germline mutation. We found four new mutations （***142Phe, ***233gly, ***430＊, and ***360Tyrfs＊31）. In Epstein-Barr virus （EBV）-immortalized PMBCs derived from the MPS II patients, no IDS protein was detected in case of the ***142Phe and ***360Tyrfs＊31 mutants. For ***233gly and ***430＊, we observed a residual expression of IDS. The ***233gly and ***430＊ mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold, respectively, compared with healthy controls. This observation may help explain the mild disease phenotype in MPS II patients who had these two mutations whereas the ***142Phe and ***360Tyrfs＊31 mutations caused the severe disease manifestation.

关键词： Hunter syndrome Mucopolysaccharidosis type II Iduronate-2-sulfatase Mutations glycosaminoglycans

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Artificial enhancement of sturgeon stock in freshwater reservoirs:A case study on sterlet Acipenser ruthenus of the Kama reservoir

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Aquaculture and Fisheries 2024年第2期9卷 287-294页

作者： Pavel B.Mikheev Semyon N.Kazarinov Alla g.Melnikova Stanislav V.Ponosov Nikolai g.Petrenko Andrei I.Nikiforov alexey Yu Puzik Olga N.Elchenkova Perm State National Research University Perm614990Russia Khabarovsk Branch of the Federal State Budget Scientific Institution“Russian Federal Research Institute of Fisheries and Oceanography”“KhabarovskNIRO” Khabarovsk680038Russia Perm Branch of the Federal State Budget Scientific Institution“Russian Federal Research Institute of Fisheries and Oceanography”“PermNIRO” Perm614991Russia Federal State Budget Scientific Institution“Russian Federal Research Institute of Fisheries and Oceanography”“VNIRO” Moscow117454Russia Moscow State Institute of International Relations(University)of the Ministry for Foreign Affairs of Russia“MgIMO” Moscow117454Russia Department of State Control Supervision and Protection of Aquatic Biological Resources for Perm KraiMiddle-Volga Regional Office of the Federal Fishery AgencyPerm614990Russia

The paper presents the results of the sterlet sturgeon Acipenser ruthenus reintroduction into the Kama Reservoir(Perm Krai,Russia)by sterlet fry from hatcheries into the reservoir since *** effectiveness of hatchery releases was evaluated by monitoring gillnet sampling *** results showed that the species was reported throughout entire Kama Reservoir,which contrasts with 1988-1994 data,when the species was registered only at the upper part of the reservoir near the Kama River *** highest number and biomass values of catch per unit effort(CPUE)of the sterlet were found in submerged river channels-the deepest habitats with flow conditions which are close to the ecological requirements of the *** distribution of the sterlet within the channel biotopes of the reservoir is defined by reduced *** biggest individuals and the widest size range of the sterlet were typical for the upper area of the reservoir and Chusovskoy Bay,which have the greatest *** smallest sizes were typical for fish from catches near the dam of the reservoir,which is consistent with the published data on the distribution of sterlet in reservoir *** presented results may indicate the artificial formation of the sterlet stock in the Kama Reservoir maintained by hatchery *** revealed distribution of the sterlet in the reservoir determines the direction of further research on natural reproduction and thus formation of an artificially formed ***,future studies are required to assess the possibility of hybridization of the sterlet of artificial origin with natural populations of the species,since the low genetic diversity of the sterlet released into the Kama Reservoir which can lead to irreversible loss of genetic individuality of the natural stocks of the species in the catchment of upper course of the Kama River.

关键词： Sterlet Acipenser ruthenus Kama reservoir Hatchery releases CPUE Artificial stock formation

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Insights into the hydrogen evolution reaction in vanadium redox flow batteries:A synchrotron radiation based X-ray imaging study

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Journal of Energy Chemistry 2024年第4期91卷 132-144页

作者： Kerstin Köble alexey Ershov Kangjun Duan Monja Schilling Alexander Rampf Angelica Cecilia TomášFaragó Marcus Zuber Tilo Baumbach Roswitha Zeis Helmholtz Institute Ulm Karlsruhe Institute of Technology89081 UlmGermany Laboratory for Applications of Synchrotron Radiation Karlsruhe Institute of Technology76131 KarlsruheGermany Institute for Photon Science and Synchrotron Radiation Karlsruhe Institute of Technology76344 Eggenstein-LeopoldshafenGermany Department of Electrical Electronicsand Communication EngineeringFaculty of EngineeringFriedrich-Alexander-Universität Erlangen-Nürnberg(FAU)91058 ErlangenGermany Department of Mechanical and Industrial Engineering University of TorontoToronto M5S 3G8OntarioCanada

The parasitic hydrogen evolution reaction(HER)in the negative half-cell of vanadium redox flow batteries(VRFBs)causes severe efficiency ***,a deeper understanding of this process and the accompanying bubble formation is *** benchmarking study locally analyzes the bubble distribution in thick,porous electrodes for the first time using deep learning-based image segmentation of synchrotron X-ray *** large three-dimensional data set was processed precisely in less than one minute while minimizing human errors and pointing out areas of increased HER activity in *** study systematically varies the electrode potential and material,concluding that more negative electrode potentials of-200 m V *** hydrogen electrode(RHE)and lower cause more substantial bubble formation,resulting in bubble fractions of around 15%–20%in carbon felt ***,the bubble fractions stay only around 2%in an electrode combining carbon felt and carbon *** detected areas with high HER activity,such as the border subregion with more than 30%bubble fraction in carbon felt electrodes,the cutting edges,and preferential spots in the electrode bulk,are potential-independent and suggest that larger electrodes with a higher bulk-to-border ratio might reduce HER-related performance *** described combination of electrochemical measurements,local X-ray microtomography,AI-based segmentation,and 3D morphometric analysis is a powerful and novel approach for local bubble analysis in three-dimensional porous electrodes,providing an essential toolkit for a broad community working on bubble-generating electrochemical systems.

关键词： Vanadium redox flow battery Synchrotron X-ray imaging Tomography Hydrogen evolution reaction gas bubbles Deep learning

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Expanded Porphyrin Exhibiting Off-Centered Out-of-Plane Coordination to Dysprosium

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CCS Chemistry 2024年第7期6卷 1731-1738页

作者： Dmitry I.Nazarov Jorge Labella alexey V.Kuzmin Maxim A.Faraonov Evgenii N.Ivanov Salavat S.Khasanov Tomas Torres Mikhail K.Islyaikin Dmitri V.Konarev Federal Research Center of Problems of Chemical Physics and Medicinal Chemistry RAS 142432 Chernogolovka Department of Organic Chemistry Universidad Autonoma de Madrid28049 Madrid Institute of Solid-State Physics RAS 142432 Chernogolovka Research Institute of Macroheterocycles Ivanovo State University of Chemistry and Technology15300 Ivanovo g.A.Krestov Institute of Solution Chemistry of the Russian Academy of Sciences 153045 Ivanovo Institute for Advanced Research in Chemical Sciences Universidad Autonoma de Madrid28049 Madrid IMDEA-Nanociencia 28049 Madrid

The complexation of high-spin lanthanides to porphyrinoids is a powerful strategy for the development of advanced molecular *** this context,the use of expanded porphyrinoids remains elusive since their coordination chemistry is challenging to ***,taking inspiration from on-surface chemistry,we explored the coordination of Dy^(3+)to a six-membered porphyrinoid,namely,the hemihexaphyrazine ***,we observed the selective formation of a mono-nuclear off-centered,out-of-plane H_(2)Hhp-Dy^(3+)complex when performing the complexation under reductive *** this reaction,the oxidation state of the macrocycle did not *** X-ray diffraction analysis,we found that the coordination number of Dy in this complex was *** macrocycle cocrystallized with decamethylcobaltocene(Cp_(2)^(*)Co)molecules,giving rise to a wellordered solid-state packing,governed byπ-π*** a result of this organization,a small magnetic coupling between the neighboring molecules was *** in all,this work provides key insights into the coordination of magnetically active metals with expanded porphyrinoids,thus motivating the development of advanced spintronic devices.

关键词： porphyrins dysprosium macrocycle coordination chemistry magnetism

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心肌缺血再灌注损伤中心肌免疫细胞单细胞图谱绘制及具有心肌保护效应的Ym-1hi中性粒细胞的鉴定

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Science Bulletin 2024年第7期69卷 949-967页

作者：董亚兰康真玉张子力张永强周海锋刘艳飞帅欣欣李君仪殷梁青青王埙埙马彦范恒 Feng Jiang 林志豪丁从珠金渊真 alexey Sarapultsev 李芳菲张戈谢天尹长军程翔罗珊珊刘玥胡德胜 Department of Integrated Traditional Chinese and Western Medicine Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Hubei Key Laboratory of Biological Targeted Therapy Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Nanjing Drum Tower Hospital Clinical College of Traditional Chinese and Western MedicineNanjing University of Chinese MedicineNanjing 210008China National Clinical Research Center for Chinese Medicine Cardiology Xiyuan HospitalChinese Academy of Chinese Medical SciencesBeijing 100091China Department of Cardiology Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Department of International Education Tianjin University of Traditional Chinese MedicineTianjin 300193China Institute of Neuroscience School of MedicineXiamen UniversityXiamen 361102China School of Traditional Chinese Medicine Xiamen University MalaysiaSepang 43900Malaysia School of Medical Biology South Ural State UniversityChelyabinsk 620049Russia Shum Yiu Foon Sum Bik Chuen Memorial Centre for Cancer and Inflammation Research(CCIR) School of Chinese MedicineHong Kong Baptist UniversityHong Kong 999077China Institute of Integrated Bioinfomedicine and Translational Science School of Chinese MedicineHong Kong Baptist UniversityHong Kong 999077China Division of Vascular Surgery The First Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510080China Institute of Precision Medicine The First Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510080China Institute for Cardiovascular Prevention(IPEK) Ludwig-Maximilians-UniversityMunich 80336Germany Institute of Hematology Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China China-Russia Medical Research Center for Stress Immunology Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China

Myocardial ischemia–reperfusion injury(MIRI)is a major hindrance to the success of cardiac reperfusion *** increased neutrophil infiltration is a hallmark of MIRI,the subtypes and alterations of neutrophils in this process remain ***,we performed single-cell sequencing of cardiac CD45^(+)cells isolated from the murine myocardium subjected to MIRI at six-time *** identified diverse types of infiltrating immune cells and their dynamic changes during *** neutrophils showed the most immediate response and largest changes and featured with functionally heterogeneous subpopulations,including Ccl3^(hi)Neu and Ym-1^(hi)Neu,which were increased at 6 h and 1 d after reperfusion,***-1^(hi)Neu selectively expressed genes with protective effects and was,therefore,identified as a novel specific type of cardiac cell in the injured *** analysis indicated that neutrophils and their subtypes orchestrated subsequent immune responses in the cardiac tissues,especially instructing the response of *** abundance of Ym-1^(hi)Neu was closely correlated with the therapeutic efficacy of MIRI when neutrophils were specifically targeted by anti-Lymphocyte antigen 6 complex locus g6D(Ly6g)or anti-Intercellular cell adhesion molecule-1(ICAM-1)neutralizing *** addition,a neutrophil subtype with the same phenotype as Ym-1^(hi)Neu was detected in clinical samples and correlated with ***-1 inhibition exacerbated myocardial injury,whereas Ym-1 supplementation significantly ameliorated injury in MIRI mice,which was attributed to the tilt of Ym-1 on the polarization of macrophages toward the repair phenotype in myocardial ***,our findings reveal the antiinflammatory phenotype of Ym-1^(hi)Neu and highlight its critical role in myocardial protection during the early stages of MIRI.

关键词： Myocardial ischemia-reperfusion injury Neutrophil Ym-1 Cardiac immune response Single-cell sequencing

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Experimental and ab initio study of Ba_(2)Na_(3)(B_(3)O_(6))_(2)F stability in the pressure range of 0–10 gPa

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International Journal of Minerals,Metallurgy and Materials 2023年第9期30卷 1846-1854页

作者： Nursultan E.Sagatov Tatyana B.Bekker Yulia g.Vinogradova alexey V.Davydov Ivan V.Podborodnikov Konstantin D.Litasov Sobolev Institute of geology and Mineralogy Siberian Branch of Russian Academy of SciencesNovosibirsk 630090Russia Department of geology and geophysics Novosibirsk State UniversityNovosibirsk 630090Russia Research and Development Department Novosibirsk State University of ArchitectureDesign and Arts(NSUADA)Novosibirsk 630099Russia Vereshchagin Institute for High Pressure Physics Russian Academy of SciencesTroitsk 108840Russia Fersman Mineralogical Museum Russian Academy of SciencesMoscow 119071Russia

Both numerical and experimental studies of the stability and electronic properties of barium–sodium metaborate Ba_(2)Na_(3)(B_(3)O_(6))_(2)F(P63/m) at pressures up to 10 gPa have been carried out. Electronic-structure calculations with HSE06 hybrid functional showed that Ba_(2)Na_(3)(B_(3)O_(6))_(2)F has an indirect band gap of 6.289 eV. A numerical study revealed the decomposition of Ba_(2)Na_(3)(B_(3)O_(6))_(2)F into the BaB_(2)O_(4),Na BO_(2), and NaF phases above 3.4 gPa at 300 K. Subsequent high-pressure high-temperature experiments performed using ‘Discoverer-1500’DIA-type apparatus at pressures of 3 and 6 gPa and temperature of 1173 K confirmed the stability of Ba_(2)Na_(3)(B_(3)O_(6))_(2)F at 3 gPa and its decomposition into BaB_(2)O_(4), NaBO_(2), and NaF at 6 gPa, which was verified by energy-dispersive X-ray analysis and Raman spectroscopy. The observed Raman bands of the Ba_(2)Na_(3)(B_(3)O_(6))_(2)F phase were assigned by comparing the experimental and calculated spectra. The experimental Raman spectra of decomposition reaction products obtained at 6 gPa suggest the origin of a new high-pressure modification of barium metaborate BaB_(2)O_(4).

关键词： density functional theory phase stability borate high pressure Raman spectroscopy

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Previously unknown behavior in parasitic cuckoo females:male-like vocalization during migratory activity

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Avian Research 2021年第1期12卷 1-16页

作者： Swetlana g.Meshcheryagina alexey Opaev Institute of Plant and Animal Ecology Ural Branch of the Russian Academy of SciencesEkaterinburgRussia A.N.Severtsov Institute of Ecology and Evolution Russian Academy of SciencesMoscowRussia

Background:In the last decade,enigmatic male-like cuckoo calls have been reported several times in East *** calls exhibited a combination of vocal traits of both Oriental Cuckoo(Cuculus optatus)and Common Cuckoo(Cuculus canorus)advertising calls,and some authors therefore suggested that the enigmatic calls were produced by either Common×Oriental Cuckoo male hybrids or Common Cuckoo males having a gene ***,the exact identity of calling birds are still ***:We recorded previously unknown male-like calls from three captive Oriental Cuckoo females,and compared these calls with enigmatic vocalizations recorded in the wild as well as with advertising vocalizations of Common and Oriental Cuckoo *** achieve this,we measured calls ***,we video-recorded captive female emitting male-like calls,and compared these recordings with the YouTube recordings of calling males of both Common and Oriental Cuckoos to get insight into the mechanism of call ***:The analysis showed that female male-like calls recorded in captivity were similar to enigmatic calls recorded in the ***,Oriental Cuckoo females might produce the latter *** features of these female calls appeared to be unusual among ***,females produced male-like calls at the time of spring and autumn migratory activity and on migration in the *** of this,functional significance of this call remained ***,the male-like female call unexpectedly combined features of both closed-mouth(closed beak and simultaneous inflation of the‘throat sac')and open-mouth(prominent harmonic spectrum and the maximum neck extension observed at the beginning of a sound)vocal ***:The Cuculus vocalizations outside the reproductive season remain poorly ***,we found for the first time that Oriental Cuckoo females can produce male-like calls in that *** of its rarity,this call might be an ***,fe

关键词： Closed-mouth vocal behavior Cuckoo call Cuculus optatus Female song Male-like vocalization

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Evolution of parthenogenetic reproduction in Caucasian rock lizards:A review

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Current Zoology 2023年第2期69卷 128-135页

作者： Marine Arakelyan Victor Spangenberg Varos Petrosyan alexey Ryskov Oksana Kolomiets Eduard galoyan Department of Zoology Yerevan State UniversityYerevanArmenia Vavilov Institute of general genetics MoscowRussia Severtsov Institute of Ecology and Evolution RAS MoscowRussia Institute of gene Biology RASMoscowRussia Zoological Museum of Moscow State University MoscowRussia

Despite numerous works devoted to hybrid origin of parthenogenesis in reptiles,the causes of hybridization between different species,resulting in the origin of parthenogenetic forms,remain *** studies demonstrate that sexual species considered parental to parthenogenetic rock lizards(Darevskia spp.)avoid interspecific mating in the secondary overlap areas.A specific combination of environmental factors during last glaciation period was critical for ectotherms,which led to a change in their distribution and sex *** population structure(e.g.,male bias)and limited available distributional range favored the deviation of reproductive behavior when species switched to interspecific *** date,at least 7 diploid parthenogenetic species of rock lizards(Darevskia,Lacertidae)originated through interspecific hybridization in the *** cytogenetic specifics of meiosis,in particular the weak checkpoints of prophase l,may have allowed the formation of hybrid karyotypes in rock *** and polyploidization are 2 important evolutionary forces in the genus *** present,throughout backcrossing between parthenogenetic and parental species,the triploid and tetraploid hybrid individuals appear annually,but no triploid species found among Darevskia *** current stage of *** speciation by hybridization with the long-term stage of diploid parthenogenetic species,non-distorted meiosis,together with the high ecological plasticity of Caucasian rock lizards provide us with a new model for considering the pathways and persistence of the evolution of parthenogenesis in vertebrates.

关键词： Caucasus glacial period hybridization reptiles reticulate evolution unisexual

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On Splitting of the Normalizer of a Maximal Torus in E6(q)

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Algebra Colloquium 2019年第2期26卷 329-350页

作者： alexey galt alexey Staroletov Sobolev Institute of Mathematics Novosibirsk Russia

Let g be a finite group of Lie type E6 over Fq (adjoint or simply connected) and W be the Weyl group of g. We describe maximal tori T such that T has a complement in its algebraic normalizer N(g, T). It is well known that for each maximal torus T of g there exists an element w ∈ W such that N(g, T )/T ■ CW(w). When T does not have a complement isomorphic to CW(w), we show that w has a lift in N(g, T) of the same order.

关键词： finite group of Lie type maximal torus algebraic normalizer split extension

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Astrocytes in human central nervous system diseases: a frontier for new therapies

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Signal Transduction and Targeted Therapy 2023年第11期8卷 5233-5269页

作者： Alexei Verkhratsky Arthur Butt Baoman Li Peter Illes Robert Zorec alexey Semyanov Yong Tang Michael V.Sofroniew International Joint Research Centre on Purinergic Signalling/School of Health and Rehabilitation Chengdu University of Traditional Chinese MedicineChengduChina Department of Forensic Analytical Toxicology School of Forensic MedicineChina Medical UniversityShenyangChina Faculty of Biology Medicine and HealthThe University of ManchesterManchesterUK Achucarro Centre for Neuroscience IKERBASQUEBasque Foundation for ScienceBilbaoSpain Department of Stem Cell Biology State Research Institute Centre for Innovative MedicineLT-01102VilniusLithuania Institute of Biomedical and Biomolecular Sciences School of Pharmacy and Biomedical SciencesUniversity of PortsmouthPortsmouthUK Rudolf Boehm Institute for Pharmacology and Toxicology University of Leipzig04109LeipzigGermany Celica Biomedical Lab Cell EngineeringTechnology Park1000LjubljanaSlovenia Laboratory of Neuroendocrinology—Molecular Cell Physiology Institute of PathophysiologyUniversity of LjubljanaFaculty of MedicineLjubljanaSlovenia Department of Physiology Jiaxing University College of Medicine314033JiaxingChina Key Laboratory of Acupuncture for Senile Disease(Chengdu University of TCM) Ministry of Education/Acupuncture and Chronobiology Key Laboratory of Sichuan ProvinceChengduChina Department of Neurobiology David Geffen School of MedicineUniversity of CaliforniaLos AngelesCAUSA

Astroglia are a broad class of neural parenchymal cells primarily dedicated to homoeostasis and defence of the central nervous system(CNS).Astroglia contribute to the pathophysiology of all neurological and neuropsychiatric disorders in ways that can be either beneficial or detrimental to disorder *** changes in astroglia can be primary or secondary and can result in gain or loss of *** respond to external,non-cell autonomous signals associated with any form of CNS pathology by undergoing complex and variable changes in their structure,molecular expression,and *** addition,internally driven,cell autonomous changes of astroglial innate properties can lead to CNS *** pathophysiology is complex,with different pathophysiological cell states and cell phenotypes that are context-specific and vary with disorder,disorder-stage,comorbidities,age,and ***,we classify astroglial pathophysiology into(i)reactive astrogliosis,(ii)astroglial atrophy with loss of function,(iii)astroglial degeneration and death,and(iv)astrocytopathies characterised by aberrant forms that drive *** review astroglial pathophysiology across the spectrum of human CNS diseases and disorders,including neurotrauma,stroke,neuroinfection,autoimmune attack and epilepsy,as well as neurodevelopmental,neurodegenerative,metabolic and neuropsychiatric *** cellular and molecular mechanisms of astroglial pathophysiology represents a new frontier to identify novel therapeutic strategies.

关键词： diseases epilepsy degeneration

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