检索结果-南通市图书馆

Neurodegenerative diseases:a hotbed for splicing defects and the potential therapies

Translational Neurodegeneration 2021年第2期10卷 195-212页

作者： Dunhui Li Craig Stewart McIntosh Frank Louis Mastaglia Steve Donald Wilton May Thandar Aung-Htut centre for Molecular Medicine and Innovative Therapeutics Health Futures InstituteMurdoch UniversityPerthWestern AustraliaAustralia Perron Institute for neurological and Translational Science Centre for Neuromuscular and Neurological DisordersThe University of Western AustraliaPerthWestern AustraliaAustralia

Precursor messenger RNA(pre-mRNA)splicing is a fundamental step in eukaryotic gene expression that systematically removes non-coding regions(introns)and ligates coding regions(exons)into a continuous message(mature mRNA).This process is highly regulated and can be highly flexible through a process known as alternative splicing,which allows for several transcripts to arise from a single gene,thereby greatly increasing genetic plasticity and the diversity of *** splicing is particularly prevalent in neuronal cells,where the splicing patterns are continuously changing to maintain cellular homeostasis and promote neurogenesis,migration and synaptic *** continuous changes in splicing patterns and a high demand on many cis-and trans-splicing factors contribute to the susceptibility of neuronal tissues to splicing *** resultant neurodegenerative diseases are a large group of disorders defined by a gradual loss of neurons and a progressive impairment in neuronal *** of the most common neurodegenerative diseases involve some form of splicing defect(s),such as Alzheimer’s disease,Parkinson’s disease and spinal muscular *** growing understanding of RNA splicing has led to the explosion of research in the field of splice-switching antisense oligonucleotide *** we review our current understanding of the effects alternative splicing has on neuronal differentiation,neuronal migration,synaptic maturation and regulation,as well as the impact on neurodegenerative *** will also review the current landscape of splice-switching antisense oligonucleotides as a therapeutic strategy for a number of common neurodegenerative disorders.

关键词： Neurodegenerative diseases Parkinson’s disease Alzheimer’s disease Alternative splicing Splicing defects Antisense oligonucleotides Splice-switching Disease-modifying treatment

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis

引用

Neural Regeneration Research 2020年第12期15卷 2186-2194页

作者： Adriana Delice Foster Sarah Lyn Rea Harry Perkins Institute of Medical Research University of Western Australia Perron Institute for neurological and Translational Science Centre for Neuromuscular and Neurological DisordersThe University of Western AustraliaNedlandsWestern AustraliaAustralia centre for Molecular Medicine and Innovative Therapeutics Murdoch University Murdoch Western Australia Australia

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration are multifaceted diseases with genotypic,pathological and clinical *** such overlap is the presence of SQSTM1/p62 *** traditionally mutations manifesting in the ubiquitin-associated domain of p62 were associated with Paget’s disease of bone,mutations affecting all functional domains of p62 have now been identified in amyotrophic lateral sclerosis and frontotemporal lobar degeneration patients.p62 is a multifunctional protein that facilitates protein degradation through autophagy and the ubiquitin-proteasome system,and also regulates cell survival via the Nrf2 antioxidant response pathway,the nuclear factor-kappa B signaling pathway and *** in these signaling and protein degradation pathways have been observed in amyotrophic lateral sclerosis and frontotemporal lobar degeneration,and mutations that affect the role of p62 in these pathways may contribute to disease *** this review we discuss the role of p62 in these pathways,the effects of p62 mutations and the effect of mutations in the p62 modulator TANK-binding kinase 1,in relation to amyotrophic lateral sclerosis-frontotemporal lobar degeneration pathogenesis.

关键词： aggregate/inclusion body formation amyotrophic lateral sclerosis-frontotemporal lobar degeneration autophagy cell signaling mitophagy p62/SQSTM1 protein degradation

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

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

引用

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

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Regenerative biomarkers for Duchenne muscular dystrophy

引用

Neural Regeneration Research 2019年第8期14卷 1317-1320页

作者： Simon Guiraud Kay E.Davies MDUK Oxford neuromuscular centre Department of PhysiologyAnatomy and Genetics

Skeletal muscle has an extraordinary capacity to regenerate after injury and trauma. The muscle repair mechanism is a complex process orchestrated by multiple steps. In neuromuscular disorders such as Duchenne muscular dystrophy (DMD), the pathological consequences of the lack of dystrophin and the loss of the dystrophin-associated protein complex are dramatic, with a progressive cascade of events, such as continual influx of inflammation, repeated cycles of degeneration and impaired regeneration. Thus, muscle regeneration is a hallmark of the disease and careful monitoring of regenerative processes with robust markers should provide useful information to the field. Since decades, several indices of regeneration such as centronucleation and fibre size have been commonly used. In the present review, we discuss the impaired regenerative process in DMD, the common and new indices of regeneration and their associated methodologies. We notably highlight the regenerative marker embryonic myosin as a robust indicator of muscle regeneration. We also describe new quantitative methodologies offering the possibility of using a panel of translational regenerative biomarkers to obtain a more complete view of the regeneration processes. Upregulation of utrophin, an autosomal and functional paralogue of dystrophin, is one of the most promising therapeutic strategies as it targets the primary cause of the disease and is applicable to all DMD patients regardless their genetic defects. As utrophin is a regeneration associated protein increased in dystrophic muscle, we discuss the correlation of utrophin levels after drug treatment with regeneration markers. The recent advances in technologies and complementary markers of muscle regeneration described in this review, provide an unprecedented opportunity to develop more robust utrophin DMD based strategies for all DMD patients.

关键词： DMD regeneration biomarkers utrophin embryonic myosin methodologies muscle repair degeneration

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

The effects of a supervised Pilates training program on balance in Parkinson’s disease

引用

Advances in Parkinson's Disease 2013年第2期2卷 58-61页

作者： Liam Johnson David Putrino Ian James Julian Rodrigues Rick Stell Gary Thickbroom Frank L. Mastaglia Australian Neuro-Muscular Research Institute Movement Disorders Clinic Queen Elizabeth II Medical Centre Centre for Neuro- muscular & Neurological Disorders University of Western Australia Crawley Australia Australian neuromuscular Research Institute Movement Disorders Clinic Queen Elizabeth II Medical Centre Centre for Neuromuscular & Neurological Disorders University of Western Australia Crawley Australia Australian Neuro-Muscular Research Institute Movement Disorders Clinic Queen Elizabeth II Medical Centre Centre for Neuromuscular & Neurological Disorders University of Western Australia Crawley Australia Australian neuromuscular Research Institute Movement Disorders Clinic Queen Elizabeth II Medical Centre Centre for Neuromuscular & Neurological Disorders University of Western Australia Crawley Australia School of Psychological and Clinical Sciences Charles Darwin University Darwin Australia Department of Mathematics and Statistics Murdoch University Murdoch Australia

Pilates therapy improves core muscle function and axial stability but its effects on balance in idiopathic Parkinson’s disease (IPD) have not been evaluated. The objective of this study was to evaluate the effects of a Pilates exercise program on postural stability and balance confidence in people with IPD. Ten IPD patients (Hoehn & Yahr Stage 1-3) with a history of falls or nearfalls had the following assessments before and after completion of a 6-week supervised Pilates exercise program: Activities-Specific Balance Confidence Scale (ABC);Berg Balance Scale (BBS);Schwab and England Scale (SES);Unified Parkinson’s Disease Rating Scale (UPDRS);pull-test;timed-up-and-go (TUG);5-metre walk;static and dynamic posturography. There were significant improvements in BBS score, 5-metre walk time and TUG after the training program, as well as improvement trends in some posturographic measures. Participants also reported improved balance confidence with Activities of Daily Living (ADLs). Our findings suggest that Pilates therapy can be beneficial in IPD and warrants further evaluation in a larger study.

关键词： Parkinson’s Disease Pilates Postural Instability Static Dynamic Posturography

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Emerging potential of progranulin-dependent SorCS2 signaling in healthy and diseased nervous systems

引用

Neural Regeneration Research 2025年第9期20卷 2591-2593页

作者： Alena Salasova Anders Nykjær Danish Research Institute of Translational Neuroscience DANDRITE-Nordic EMBL Partnership for Molecular Medicine and Centre of Excellence PROMEMODepartment of BiomedicineAarhus UniversityAarhusDenmark

The formation of the mammalian nervous system and its maturation into sensory,motor,cognitive,and behavioral circuits is a complex process that begins during early embryogenesis and lasts until young *** neurodevelopm... 详细信息

关键词： progr jointly CS2

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

CMT1A current gene therapy approaches and promising biomarkers

引用

Neural Regeneration Research 2023年第7期18卷 1434-1440页

作者： Marina Stavrou Kleopas AKleopa Neuroscience Department The Cyprus Institute of Neurology and GeneticsNicosiaCyprus Center for neuromuscular disorders The Cyprus Institute of Neurology and GeneticsNicosiaCyprus

Charcot-Marie-Tooth neuropathies(CMT)constitute a group of common but highly heterogeneous,non-syndromic genetic disorders affecting predominantly the peripheral nervous *** type 1A(CMT1A)is the most frequent type and accounts for almost~50%of all diagnosed CMT ***1A results from the duplication of the peripheral myelin protein 22(PMP22)*** of PMP22 protein overloads the protein folding apparatus in Schwann cells and activates the unfolded protein *** leads to Schwann cell apoptosis,dys-and de-myelination and secondary axonal degeneration,ultimately causing neurological *** the last decades,several different gene therapies have been developed to treat *** all of them remain at the pre-clinical stage using CMT1A animal models overexpressing *** therapeutic goal is to achieve gene silencing,directly or indirectly,thereby reversing the CMT1A genetic mechanism allowing the recovery of myelination and prevention of axonal *** promising treatments are rapidly emerging,treatment-responsive and clinically relevant biomarkers are becoming *** biomarkers and sensitive clinical evaluation tools will facilitate the design and successful completion of future clinical trials for CMT1A.

关键词： axonal degeneration biomarkers Charcot-Marie-Tooth disease gene therapy inherited neuropathy mouse models

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Over-Expressing Prohibitin (PHB) in Neuronal Cultures Exacerbates Cell Death Following Hydrogen Peroxide and L-Glutamic Acid Induced Injury

引用

Neuroscience & Medicine 2014年第4期5卷 149-160页

作者： Jonathan Teoh Sherif Boulos Joanne Chieng Neville W. Knuckey Bruno P. Meloni 1centre for neuromuscular and neurological disorders The University of Western Australia and Western Australian Neuroscience Research Institute QEII Medical Centre Nedlands WA Australia 2Department of Neurosurgery Sir Charles Gairdner Hospital Nedlands WA Australia centre for neuromuscular and neurological disorders The University of Western Australia and Western Australian Neuroscience Research Institute QEII Medical Centre Nedlands WA Australia

Using proteomics, previous work in our laboratory identified five mitochondrial related proteins [citrate synthase (CS), glucose-regulated protein 75 (GRP75), heat shock protein 60 (HSP60), prohibitin (PHB), voltage-dependent anion channel 1 (VDAC1)] to be differentially expressed in primary cortical neuronal cultures following preconditioning treatments?[1] [2]. To investigate a protective or damaging role of these five proteins in neurons, we used RNAi constructs to knockdown and adenoviral vectors to over-express the proteins in cortical neuronal cultures prior to exposure to three ischemia-related injury models: excitotoxicity (L-glutamic acid), oxidative stress (hydrogen peroxide) and in vitro ischemia (oxygen-glucose deprivation). We observed that down-regulating these mitochondrial proteins had no effect on neuronal viability, in any injury model. By contrast, over-expression of PHB exacerbated cell death in the hydrogen peroxide and L-glutamic acid injury models. These findings indicate that PHB plays a neurodamaging role following oxidative and excitotoxic stress and suggests that the protein is a potential therapeutic target for the design of drugs to limit neuronal death following cerebral ischemia and other forms of brain injury.

关键词： Prohibitin Neurodamage Mitochondria In Vitro Injury Models Neuronal Cultures

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

The immune system:uncharted pathways between senses and the brain

引用

Neural Regeneration Research 2024年第6期19卷 1173-1174页

作者： Noelia Casares Mar Cuadrado-Tejedor Ana García-Osta Juan JoséLasarte Immunology and Immunotherapy Program Centre for Applied Medical Research(CIMA)University of NavarraIDISNAPamplonaSpain Division of Gene Therapy for neurological disorders Centre for Applied Medical Research(CIMA)University of NavarraIDISNAPamplonaSpain Pathology Anatomy and Physiology DepartmentSchool of MedicineUniversity of NavarraIDISNAPamplonaSpain

Humans and animals use the classic five senses-sight,hearing,touch,smell,and taste-to detect and monitor their environment,with the sense of position and movement often referred to as the sixth *** perception of external signals through the senses is essential to an organism's survival,transmitting signals to the central nervous system(CNS)and prompting physiological changes in other biological *** addition to the direct effects of sense-induced mediators in the brain.

关键词： prompt system transmitting

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Myelin Oligodendrocyte Glycoprotein-IgG Contributes to Oligodendrocytopathy in the Presence of Complement, Distinct from Astrocytopathy Induced by AQP4-IgG

引用

Neuroscience Bulletin 2019年第5期35卷 853-866页

作者： Ling Fang Xinmei Kang Zhen Wang Shisi Wang Jingqi Wang Yifan Zhou Chen Chen Xiaobo Sun Yaping Yan Allan G. Kermode Lisheng Peng Wei Qiu Department of Neurology The Third Affiliated Hospital of Sun Yat-sen University Guangzhou 510000 China Department of Neurology Xuanwu Hospital Capital Medical University Beijing 100053 China Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest China College of Life Sciences Shaanxi Normal University Xi’an 710119 China Department of Neurology Centre for Neuromuscular and Neurological Disorders Queen Elizabeth II Medical Centre Sir Charles Gairdner Hospital University of Western Australia Perth WA 6009 Australia

Immunoglobulin G against myelin oligodendrocyte glycoprotein(MOG-Ig G) is detectable in neuromyelitis optica spectrum disorder(NMOSD) without aquaporin-4 Ig G(AQP4-Ig G), but its pathogenicity remains *** this study, we explored the pathogenic mechanisms of MOG-Ig G in vitro and in vivo and compared them with those of AQP4-Ig G. MOG-Ig G-positive serum induced complement activation and cell death in human embryonic kidney(HEK)-293 T cells transfected with human MOG. In C57 BL/6 mice and Sprague-Dawley rats, MOG-Ig G only caused lesions in the presence of complement. Interestingly, AQP4-Ig G induced astroglial damage, while MOGIg G mainly caused myelin loss. MOG-Ig G also induced astrocyte damage in mouse brains in the presence ofcomplement. Importantly, we also observed ultrastructural changes induced by MOG-Ig G and AQP4-Ig G. These findings suggest that MOG-Ig G directly mediates cell death by activating complement in vitro and producing NMOSDlike lesions in vivo. AQP4-Ig G directly targets astrocytes,while MOG-Ig G mainly damages oligodendrocytes.

关键词： Neuromyelitis optica spectrum disorder Aquaporin-4 immunoglobulin G Myelin oligodendrocyte glycoprotein immunoglobulin G Complement-dependent cytotoxicity Transmission electron microscopy

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：