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Neural Regeneration Research 2025年第6期20卷 1703-1704页

作者： Paolo Abondio Francesco Bruno IRCCS Istituto delle Scienze Neurologiche di Bologna BolognaItaly Association for neurogenetic Research(ARN) Lamezia TermeCatanzaroItaly

The brain,with its trillions of neural connections,different cellular types,and molecular complexities,presents a formidable challenge for researchers aiming to comprehend the multifaceted nature of neural *** traditional methods have provided valuable insights,emerging technologies offer unprecedented opportunities to delve deeper into the underpinnings of brain *** the everevolving landscape of neuroscience,the quest to unravel the mysteries of the human brain is bound to take a leap forward thanks to new technological improvements and bold interpretative frameworks.

关键词： function artificial landscape

Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus,Microcephaly,Dystonia and Hypomyelination

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Journal of Genetics and Genomics 2015年第2期42卷 79-81页

作者： Ofer Isakov Dorit Lev Lubov Blumkin Gershon Celniker Esther Leshinsky-Silver Noam Shomron Sackler School of Medicine Tel Aviv University Metabolic-neurogenetic Clinic Wolfson Medical Center Institute of Medical Genetics Wolfson Medical Center Pediatric Neurology unit Wolfson Medical Center Molecular Genetic Laboratory Wolfson Medical Center

Crowdfunding refers to the online gathering of finance via numerous small donations from individual supporters （the ＂crowd＂） in order to fund a service, project or cause from various fields including business, arts, medicine and science （Sisler, 2012; Cameron et al., 2013; Weigmann, 2013; Wheat et al., 2013）. Crowdfunding platforms facilitate the interaction between organizations soliciting funding for their projects and the people who wish to support them. As prices of molecular testing plummet, utilizing crowdfunding in order to support genetic research becomes increasingly feasible （Cameron et al., 2013）. Whole Exome Sequencing （WES） has been used extensively for the purpose of identifying the genetic cause of rare mendelian diseases, uncovering novel mutations in previously implicated genes or identifying new disease- causing genes （Ng et al., 2009; Bamshad et al., 2011; Gilissen et al., 2011）.

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Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy

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World Journal of Pediatrics 2014年第2期10卷 126-132页

作者： Yan-Zhi Zhang Dan-Hua Zhao Hai-Po Yang Ai-Jie Liu Xing-Zhi Chang Dao-Jun Hong Carsten Bonnemann Yun Yuan Xi-Ru Wu Hui Xiong Department of Pediatrics Peking University First HospitalBeijingChina Department of Neurology Peking University First HospitalBeijingChina Neuromuscular and neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke/NIHUSA

Background:We determined the clinical and molecular genetic characteristics of 8 Chinese patients with Ullrich congenital muscular dystrophy(UCMD).Methods:Clinical data of probands were collected and muscle biopsies of patients were *** of COL6A1,COL6A2 and COL6A3 were analyzed by direct *** in COL6A1,COL6A2 and COL6A3 were identifi ed in 8 ***:Among these mutations,5 were novel[three in the triple helical domain(THD)and 2 in the second C-terminal(C2)domain].We also identified five known missense or in-frame deletion mutations in THD and C *** studies on muscle biopsies from patients showed reduced level of collagen VI at the muscle basement membrane and mis-localization of the protein in interstitial and perivascular ***:The novel mutations we identified underscore the importance of THD and C2 domains in the assembly and function of collagen VI,thereby providing useful information for the genetic counseling of UCMD patients.

关键词： collagen VI in-frame missense triple helical domain Ullrich congenital muscular dystrophy

Vascular inflammation in the central nervous system

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Neural Regeneration Research 2022年第8期17卷 1728-1730页

作者： Xinying Guo Zhen Zhao Center for Neurodegeneration and Regeneration Zilkha Neurogenetic Institute and Department of Physiology and NeuroscienceKeck School of MedicineUniversity of Southern CaliforniaLos AngelesCAUSA Neuroscience Graduate Program Keck School of MedicineUniversity of Southern CaliforniaLos AngelesCAUSA

Vasculature is the interface between tissue and *** consists of endothelial cells,mural cells including vascular smooth muscle cells and pericytes,and other perivascular cells including macrophages and fibroblasts(Sweeney et al.,2019).The vascular system not only delivers oxygen and nutrients,but also shuttles the immune cells *** the first line of defense,the vascular system also senses the changes in surrounding tissue,particularly *** inflammation can occur in blood vessels of all sizes in any *** has a complex etiology,including infections such as coronavirus disease-19(COVID-19),and chronic condi t ions such as diabetes,hypertension and neurodegenerative diseases(Hanafi et al.,2020).Excessive vascular inflammation is clinically known as vasculitis,diagnosed by blood test,imaging and *** not only thickens the blood vessel wall,causing blood flow reduction and insufficient delivery of oxygen and nutrients,but also triggers inflammatory responses in secondary sites,or even the whole body.

关键词： inflammation al. Vascular

Induced Neural Stem Cells Generated from Rat Fibroblasts

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Genomics, Proteomics & Bioinformatics 2013年第5期11卷 312-319页

作者： Guangjun Xi Pingfang Hu Cunye Qu Shenfeng Qiu Chang Tong Qi-Long Ying Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research at USC Department of Cell and NeurobiologyUniversity of Southern California Department of Neurology Wuxi People’s Hospital Affliated to Nanjing Medical University Department of Gastroenterology Changzheng HospitalSecond Military Medical University Zilkha neurogenetic Institute University of Southern California

The generation of induced tissue-specific stem cells has been hampered by the lack of well-established methods for the maintenance of pure tissue-specific stem cells like the ones we have for embryonic stem （ES） cell cultures. Using a cocktail of cytokines and small molecules, we dem- onstrate that primitive neural stem （NS） cells derived from mouse ES cells and rat embryos can be maintained. Furthermore, using the same set of cytokines and small molecules, we show that induced NS （iNS） cells can be generated from rat fibroblasts by forced expression of the transcrip- tional factors Oct4, Sox2 and c-Myc. The generation and long-term maintenance of iNS cells could have wide and momentous implications.

关键词： Induced neural stem cells Stem cell self-renewal Fibroblasts Rat Induced pluripotent stemcells

Generation of temporal codes by elementary thalamocortical circuits in auditory cortex

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Generation of temporal codes by elementary thalamocortical c...

Linear thresholding of auditory cortical representation by back-ground noise

中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： Lukas Mesik Zilkha neurogenetic Institute Keck School of MedicineUniversity of Southern CaliforniaLos AngelesCA 90089USA

＜正＞Temporal codes in the form of relative spike latency can efficiently encode sensory *** implementation of such coding strategy requires a broad dynamic range of spike latencies in order to achieve sufficient coding capacity and *** generation of spike latency codes in the sensory pathway remains largely *** report that in individual auditory cortical neurons,spike latency codes for sound frequency cannot be simply attributed to thalamocortical relays,but are primarily generated de novo by local circuits,which fine-tune the integration time for spike generation after the arrival of thalamocortial *** tuned recurrent excitation shortens integration time selectively at the optimal frequency,while broadly tuned inhibition prolongs it preferentially at off-optimal *** push-and-pull antagonistic modulations greatly sharpen spike latency tuning and expand its dynamic ***,thalamocortical circuit-like elementary synaptic circuits can convert information spatially coded in distributions of synaptic strength into temporal codes.

关键词： auditory cortex first spike latency frequency tuning latency coding synaptic circuitry in vivo whole-cell recording

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Linear thresholding of auditory cortical representation by b...

Temporal dynamics of microglia-astrocyte interaction in neuroprotective glial scar formation after intracerebral hemorrhage

中国神经科学学会第十届全国学术会议

作者： Fei-Xue Liang Lin Bai Zhong-Ju Xiao Li-I Zhang Department of Physiology Southern Medical University Zilkha neurogenetic InstituteDepartment of Physiology and BiophysicsKeck School of MedicineUniversity of Southern California

Objective It is generally beheved that background noise play a role to mask the auditory information ***,how the levels of noise specifically transfer the auditory response properties remains largely *** The receptive field properties of individual cortical neurons in response to the target tones in background noise with different levels were measured with in vivo cell-attached *** The general effects of increasing background noise on cortical auditory neurons are the linear shifting of threshold,me compression of tonal receptive range,and the linear up-shift of the tonal receptive ***,the frequency selectivity of neuron and me shape of tonal receptive field remain *** influences of continuous noise to excitatory and inhibitory neurons are *** slowly shrink in receptive field of inhibitory neuron,resulted in the lower sensitivity to the background noise,may devote to the quickly compressed dynamic receptive area of monotonic neuron.

关键词： auditory cortex background noise signal representation linear shifting

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Journal of Pharmaceutical Analysis 2023年第8期13卷 862-879页

作者： Jingwei Zheng Haijian Wu Xiaoyu Wang Guoqiang Zhang Jia'nan Lu Weilin Xu Shenbin Xu Yuanjian Fang Anke Zhang Anwen Shao Sheng Chen Zhen Zhao Jianmin Zhang Jun Yu Department of Neurosurgery Second Affiliated HospitalSchool of MedicineZhejiang UniversityHangzhou310000China Key Laboratory of Precise Treatment and Clinical Translational Research of Neurological Diseases Hangzhou310000China Stroke Research Center for Diagnostic and Therapeutic Technologies of Zhejiang Province Hangzhou310000China Center for Neurodegeneration and Regeneration Zilkha Neurogenetic Institute and Department of Physiology and BiophysicsKeck School of MedicineUniversity of Southern CaliforniaLos AngelesCA90089USA

The role of glial scar after intracerebral hemorrhage(ICH)remains *** study aimed to investigate whether microglia-astrocyte interaction affects glial scar formation and explore the specific function of glial *** used a pharmacologic approach to induce microglial depletion during different ICH stages and examine how ablating microglia affects astrocytic scar *** transcriptomics(ST)analysis was performed to explore the potential ligand-receptor pair in the modulation of microglia-astrocyte interaction and to verify the functional changes of astrocytic scars at different *** the early stage,sustained microglial depletion induced disorganized astrocytic scar,enhanced neutrophil infiltration,and impaired tissue *** analysis indicated that microglia-derived insulin like growth factor 1(IGF1)modulated astrocytic scar formation via mechanistic target of rapamycin(mTOR)signaling ***,repopulating microglia(RM)more strongly activated mTOR signaling,facilitating a more protective scar *** combination of IGF1 and osteopontin(OPN)was necessary and sufficient for RM function,rather than IGF1 or OPN *** the chronic stage of ICH,the overall net effect of astrocytic scar changed from protective to destructive and delayed microglial depletion could partly reverse *** vital insight gleaned from our data is that sustained microglial depletion may not be a reasonable treatment strategy for early-stage ***,early-stage IGF1/OPN treatment combined with late-stage PLX3397 treatment is a promising therapeutic *** prompts us to consider the complex temporal dynamics and overall net effect of microglia and astrocytes,and develop elaborate treatment strategies at precise time points after ICH.

关键词： Microglia Astrocytes Glial scar Intracerebral hemorrhage

Parkinson’s disease and gut microbiota:from clinical to mechanistic and therapeutic studies

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Translational Neurodegeneration 2023年第1期12卷 1-30页

作者： Xuxiang Zhang Beisha Tang Jifeng Guo Department of Neurology Xiangya HospitalCentral South UniversityChangsha 410008China Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South UniversityChangsha 410008China Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and neurogenetic Diseases Changsha 410008China Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics School of Life SciencesCentral South UniversityChangsha 410008China Engineering Research Center of Hunan Province in Cognitive Impairment Disorders Central South UniversityChangsha 410008China National Clinical Research Center for Geriatric Disorders Xiangya HospitalCentral South UniversityChangsha 410008China

Parkinson’s disease(PD)is one of the most prevalent neurodegenerative *** typical symptomatology of PD includes motor symptoms;however,a range of nonmotor symptoms,such as intestinal issues,usually occur before the motor *** microorganisms inhabiting the gastrointestinal tract can profoundly influence the physiopathology of the central nervous system through neurological,endocrine,and immune system pathways involved in the microbiota-gut-brain *** addition,extensive evidence suggests that the gut microbiota is strongly associated with *** review summarizes the latest findings on microbial changes in PD and their clinical relevance,describes the underlying mechanisms through which intestinal bacteria may mediate PD,and discusses the correlations between gut microbes and anti-PD *** addition,this review outlines the status of research on microbial therapies for PD and the future directions of PD-gut microbiota research.

关键词： Gut microbiota Microbiota-gut-brain axis Mechanisms Alpha-synuclein Microbial therapy

Mutations in GBA,SNCA,and VPS35 are not associated with Alzheimer's disease in a Chinese population:a case-control study

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Neural Regeneration Research 2022年第3期17卷 682-689页

作者： Ya-Fei Wen Xue-Wen Xiao Lu Zhou Ya-Ling Jiang Yuan Zhu Li-Na Guo Xin Wang Hui Liu Ya-Fang Zhou Jun-Ling Wang Xin-Xin Liao Lu Shen Bin Jiao Department of Neurology Xiangya HospitalCentral South UniversityChangshaHunan ProvinceChina Department of Geriatrics Neurology Xiangya HospitalCentral South UniversityChangshaHunan ProvinceChina National Clinical Research Center for Geriatric Disorders Central South UniversityChangshaHunan ProvinceChina Engineering Research Center of Hunan Province in Cognitive Impairment Disorders Central South UniversityChangshaHunan ProvinceChina Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and neurogenetic Diseases ChangshaHunan ProvinceChina Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South UniversityChangshaHunan ProvinceChina Key Laboratory of Organ Injury Aging and Regenerative Medicine of Hunan ProvinceChangshaHunan ProvinceChina

SNCA,GBA,and VPS35 are three common genes associated with Parkinson's *** studies have shown that these three genes may be associated with Alzheimer's disease(AD).However,it is unclear whether these genes increase the risk of AD in Chinese *** this study,we used a targeted gene sequencing panel to screen all the exon regions and the nearby sequences of GBA,SNCA,and VPS35 in a cohort including 721 AD patients and 365 healthy controls from *** results revealed that neither common variants nor rare variants of these three genes were associated with AD in a Chinese *** findings suggest that the mutations in GBA,SNCA,and VPS35 are not likely to play an important role in the genetic susceptibility to AD in Chinese *** study was approved by the Ethics Committee of Xiangya Hospital,Central South University,China on March 9,2016(approval No.201603198).

关键词： Alzheimer's disease Chinese population common variants GBA Parkinson's disease rare variants SNCA VPS35