检索结果-南通市图书馆

Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients:a rare occurrence?

Neural Regeneration Research 2025年第1期20卷 130-138页

作者： Ilaria Martinelli Jessica Mandrioli Andrea Ghezzi Elisabetta Zucchi Giulia Gianferrari Cecilia Simonini Francesco Cavallieri Franco Valzania Department of Neurosciences Azienda Ospedaliero Universitaria di ModenaModenaItaly Clinical and Experimental Medicine Ph.D.Program University of Modena and Reggio EmiliaModenaItaly Department of Biomedical Metabolic and Neural SciencesUniversity of Modena and Reggio EmiliaModenaItaly Neurology Unit Neuromotor&Rehabilitation DepartmentAzienda USL-IRCCS di Reggio EmiliaReggio EmiliaItaly

Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of ALS.Although superoxide dismutase 1(sod1)mutations represent a minority of ALS cases,the sod1 gene remains a milestone in ALS research as it represents the first genetic target for personalized therapies.Despite numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in sod1(sod1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this subpopulation.In this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during sod1-ALS.The multifaceted expression of sod1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for sod1-ALS.

关键词： amyotrophic lateral sclerosis(ALS) autonomic extramotor genotype-phenotype multisystem involvement Parkinson’s disease sensory sod1 superoxide dismutase 1 urinary vocal cord palsy

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

氧化应激促进成骨细胞铁死亡介导激素性股骨头坏死的病理过程

引用

中国组织工程研究 2024年第20期28卷 3202-3208页

作者：章家皓刘予豪周驰莫亮方汉军陈镇秋广州中医药大学广东省广州市510405 广州中医药大学第一附属医院广东省广州市510405

背景:研究表明,糖皮质激素诱发股骨头坏死过程中骨代谢失衡与氧化应激密切相关。目的:探究氧化应激诱导成骨细胞铁死亡、促进成骨细胞凋亡、参与激素性股骨头坏死的病理机制。方法:收集47例激素性股骨头坏死患者的一般资料、血清标本和... 详细信息

背景:研究表明,糖皮质激素诱发股骨头坏死过程中骨代谢失衡与氧化应激密切相关。目的:探究氧化应激诱导成骨细胞铁死亡、促进成骨细胞凋亡、参与激素性股骨头坏死的病理机制。方法:收集47例激素性股骨头坏死患者的一般资料、血清标本和6例股骨头标本,根据ARCO分期标准将血清标本分为ARCOⅡ期、Ⅲ期及Ⅳ期,股骨头标本分为ARCOⅢ期及Ⅳ期。检测血清中丙二醛、超氧化物歧化酶1水平;通过DIA蛋白定量测序、免疫蛋白印迹试验及碱性磷酸检测并验证患者股骨头中超氧化物歧化酶1、谷胱甘肽过氧化物酶4、Bcl-2蛋白的表达。结果与结论:①激素性股骨头坏死患者的ARCO分期与年龄、性别、侧别无关;②ARCOⅢ期患者血清中丙二醛、超氧化物歧化酶1水平较Ⅱ期、Ⅳ期高;③在坏死区域与正常区域对比中,DIA蛋白定量测序结果显示,差异蛋白的功能主要与氧化还原相关,其中坏死区域中超氧化物歧化酶1、谷胱甘肽过氧化物酶4、Bcl-2蛋白表达较正常区域低,且ARCOⅣ期低于Ⅲ期;Western blot验证了DIA蛋白定量结果,且坏死区域中碱性磷酸酶活性低于正常区域,Ⅳ期低于Ⅲ期;④在坏死区域与硬化带区域中,差异蛋白的功能同样与氧化还原相关,且坏死区域中超氧化物歧化酶1、谷胱甘肽过氧化物酶4、Bcl-2蛋白表达及碱性磷酸酶活性较硬化带区域低,且Ⅳ期低于Ⅲ期;⑤结果说明,糖皮质激素可通过上调氧化应激水平,诱导成骨细胞铁死亡的发生,抑制成骨功能,影响激素性股骨头坏死的进展。

关键词：氧化应激铁死亡成骨细胞激素性股骨头坏死 sod1 GPX4

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

我该不该测——渐冻症患者基因检测问与答

引用

健康世界 2024年第4期31卷 44-45页

作者：陈晟邹漳钰福建医科大学附属协和医院神经内科

王女士,33岁,4个月前开始出现右下肢无力,并且有肌肉萎缩,当时没有重视,1个月前开始出现右上肢无力,到医院就诊,经过医生详细的查体,并做了肌电图检查,确诊为肌萎缩侧索硬化症。王女士虽然祖上三代都没有渐冻症病史,父母也都很健康,但... 详细信息

王女士,33岁,4个月前开始出现右下肢无力,并且有肌肉萎缩,当时没有重视,1个月前开始出现右上肢无力,到医院就诊,经过医生详细的查体,并做了肌电图检查,确诊为肌萎缩侧索硬化症。王女士虽然祖上三代都没有渐冻症病史,父母也都很健康,但做了基因检测发现sod1基因突变。这是临床上一位很“普通”的渐冻症患者,单侧的进行性的肢体无力菱缩,但因为她的年龄只有33岁,又变得不那么“普通”,而这就是医生建议她进行基因检测的原因。那么什么是基因突变?基因检测怎么做?那些渐冻症患者该做基因检测?下面我们就来谈谈这些问题。

关键词：肌萎缩侧索硬化症右下肢无力肌电图检查基因检测基因突变肌肉萎缩 sod1 渐冻症

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

FDA加速批准渤健肌萎缩侧索硬化症(ALS)新药Qalsody(tofersen)上市

引用

首都食品与医药 2024年第4期31卷 6-6页

作者：北京市药品监督管理局政务服务中心北京市药品监督管理局政务服务中心

近日,渤健公司宣布,美国食品药品监督管理局(FDA)已批准Qalsody(tofersen)100mg/15mL注射液用于治疗超氧化物歧化酶1(sod1)基因突变的成人肌萎缩侧索硬化症(ALS). 基于在接受Qalsody治疗的患者中观察到血浆神经丝轻链(NfL)减少,该适应证... 详细信息

近日,渤健公司宣布,美国食品药品监督管理局(FDA)已批准Qalsody(tofersen)100mg/15mL注射液用于治疗超氧化物歧化酶1(sod1)基因突变的成人肌萎缩侧索硬化症(ALS). 基于在接受Qalsody治疗的患者中观察到血浆神经丝轻链(NfL)减少,该适应证被FDA加速批准.完全批准该适应证可能取决于上市后的确认性试验的临床效果.tofersen正在进行的针对无症状sod1-ALS患者的3期ATLAS研究将作为确认性试验.

关键词：加速批准无症状神经丝基因突变 sod1 FDA

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

Baroreflex Control of Heart Rate in Mice Overexpressing Human sod1: Functional Changes in Central and Vagal Efferent Components

引用

Neuroscience Bulletin 2019年第1期35卷 91-97页

作者： Jin Chen He Gu Robert D.Wurster Zixi Cheng Division of Neuroscience and Division of Metabolic and Cardiovascular Sciences Burnett School of Biomedical SciencesCollege of MedicineUniversity of Central FloridaOrlandoFL 32816USA Department of Cellular and Molecular Physiology Stritch School of MedicineLoyola UniversityMaywoodIL 60153USA

Excessive reactive oxygen species(ROS)(such as the superoxide radical) are commonly associated with cardiac autonomic dysfunctions. Though superoxide dismutase 1(sod1) overexpression may protect against ROS damage to the autonomic nervous system, superoxide radical reduction may change normal physiological functions. Previously, we demonstrated that human sod1(hsod1) overexpression does not change baroreflex bradycardia and tachycardia but rather increases aortic depressor nerve activity in response to arterial pressure changes in C57 B6 SJL-Tg(sod1)2 Gur/J mice. Since the baroreflex arc includes afferent, central, and efferent components, the objective of this study was to determine whether hsod1 overexpression alters the central and vagal efferent mediation of heart rate(HR) responses. Our data indicate that sod1 overexpression decreased the HR responses to vagal efferent nerve stimulation but did not change the HR responses to aortic depressor nerve(ADN)stimulation. Along with the previous study, we suggest that sod1 overexpression preserves normal baroreflex function but may differentially alter the functions of the ADN, vagal efferents, and central components. While sod1 overexpression likely enhanced ADN function and the central mediation of bradycardia, it decreased vagal efferent control of HR.

关键词： sod1 Parasympathetic Baroreflex

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

Better survival in female sod1-mutant patients with ALS:a study of sod1-related natural history

引用

Translational Neurodegeneration 2019年第1期8卷 14-23页

作者： Lu Tang Yan Ma Xiao-lu Liu Lu Chen Dong-sheng Fan Department of Neurology Peking University Third Hospital49 North Garden RoadHaidian DistrictBeijing 100191People’s Republic of China

Background:sod1 mutations are the most common cause of amyotrophic lateral sclerosis(ALS)in non-Caucasian patients.Detailed natural history profiles of sod1-mutant patients will be beneficial for the strategy and interpretation of future sod1-targeted clinical practice.Methods:Mutational distribution,age at onset(AAO),site of onset,diagnostic delay,disease progression(rate of ALSFRS-R decrease,ΔFS)and survival were analysed.Further comparisons between heredity of disease,gender,and mutations were performed.Results:Sixty-six cases with 43 sod1 mutations were included and analysed,with p.His47Arg as the leading mutation and seven novel variants identified.The mean(SD)AAO was 43.92 years(9.24)for all subjects,with a significant difference between patients carrying mutations in exon 2(n=24,46.83,8.31)and exon 4(n=18,37.75,7.67)(p=0.002).The median(IQR)diagnostic delay from symptom onset was 14.50(6.00–36.50)months for all sod1-mutant patients,9.50(4.75–24.25)months for males and 24.00(9.50–47.50)months for females,revealing a gender difference(p=0.009).Similar advantages in median(IQR)ΔFS[male:female,0.55(0.24–0.94)vs 0.19(0.06–0.90),p=0.041]and mean(95%CI)survival[57.4(38.90–75.90)months vs 125.6(99.80–151.50)months,p=0.006]were also observed in females,both of which existed in sporadic ALS only when stratified by familiar or sporadic ALS.Conclusions:The results highlight a distinct mutational distribution and natural history spectrum in ALS patients carrying sod1 mutations in China.A prominent mild disease progression was observed in female patients,which had rarely been reported in the previous literature.This finding,together with the detailed analysis of natural history among each mutation,can have important implications for future genetic counselling and sod1-targeted clinical trials.

关键词： Amyotrophic lateral sclerosis Natural history studies sod1 mutations Gender difference

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

Mitochondrial quality control in amyotrophic lateral sclerosis：towards a common pathway？

引用

Neural Regeneration Research 2017年第7期12卷 1052-1061页

作者： Bilal Khalil Jean-Charles Liévens Department of Neuroscience Mayo Clinic Florida Jacksonville FL USA MMDN Université de Montpellier EPHE INSERM U1198 Montpellier France

Amyotrophic lateral sclerosis（ALS）is a devastating neurodegenerative disorder characterized by loss of upper and lower motor neurons.Different mechanisms contribute to the disease initiation and progression,including mitochondrial dysfunction which has been proposed to be a central determinant in ALS pathogenesis.Indeed,while mitochondrial defects have been mainly described in ALS-linked sod1 mutants,it is now well established that mitochondria become also dysfunctional in other ALS conditions.In such context,the mitochondrial quality control system allows to restore normal functioning of mitochondria and to prevent cell death,by both eliminating and replacing damaged mitochondrial components or by degrading the entire organelle through mitophagy.Recent evidence shows that ALS-related genes interfere with the mitochondrial quality control system.This review highlights how ineffective mitochondrial quality control may render motor neurons defenseless towards the accumulating mitochondrial damage in ALS.

关键词： C9orf72 FUS sod1 Optineurin Parkin PGC-1α PINK1 TDP-43 proteinopathies TBK1 VCP

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

A DNA G-quadruplex converts sod1 into fibrillar aggregates

引用

Chinese Chemical Letters 2021年第7期32卷 2322-2326页

作者： Wenqian Liu Yulin Xu Xue Li Yan Meng Huiling Wang Chunrong Liu Changlin Liu Li Wang Key Laboratory of Pesticide&Chemical Biology Ministry of Educationand School of ChemistryCentral China Normal UniversityWuhan 430079China Wuhan No.1 Huiquan Middle School Wuhan 430022China

Nucleic acids with G4 elements play a role in the formation of aggregates involved in intracellular phase transitions.Our previous studies suggest that different forms of DNA could act as an accelerating template in Cu/Zn superoxide dismutase(sod1)aggregation.Here,we examined the regulation of fo rmation and cytotoxicity of the sod1 aggregates by single-stranded 12-merdeoxynucleotide oligomers(dN)_(12)(N=A,T,G,C;ssDNAs)under acidic conditions.The ssDNAs can be divided into two groups based on their roles in sod1 binding,exposure of hydrophobic clusters in sod1,accelerated formation,morphology and cytotoxicity of sod1 aggregates.G-quadruplexes convert sod1 into fibrillar aggregates as a template,a fact which was observed for the first time in the nucleic acid regulation of protein aggregation.Moreover,the fibrillar or fibril-like sod1 species with a G-quadruplex provided by(dG)_(12)were less toxic than the amorphous species with(dN)_(12)(N=A,T).This study not only indicates that both morphology and cytotoxicity of protein aggregates can be regulated by the protein-bound DNAs,but also help us understand roles of nucleic aid G-quadruplexes in the formation of aggregates and membrane less organelles involved in intracellular phase transitions.

关键词： sod1 Deoxynucleotide oligomers(dN)_(12) G-quadruplexes Fibrillar aggregates

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

A natural history comparison Check for updates of sod1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations

引用

Translational Neurodegeneration 2021年第4期10卷 551-553页

作者： Lu Tang Johannes Dorst Lu Chen Xiaolu Liu Yan Ma Komelia Günther Sebastian Michels Kathrin Müller Axel Freischmidt Jochen H.Weishaupt Dongsheng Fan Albert C.Ludolph Department of Neurology Peking University Third HospitalBeijing 100191China Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases Peking University Third HospitalBeijing 100191China Department of Neurology Ulm University89081 UlmGermany German Center for Neurodegenerative Diseases(DZNE) Ulm Site89081 UlmGermany

Currently,there is no effective treatment for amyotrophic lateral sclerosis(ALS),despite the limited efficacy of riluzole[1]and edaravone[2].sod1(coding for the Cu/Zn superoxide dismutase)is the second most frequent genetic cause for ALS only after C9orf72 in patients with European ancestry while being the most frequent in Asian ALS populations[3],Multiple therapeutic approaches have targeted sod1-related ALS,including the antisense oligonucleotide tofersen with promising results in a recent phase I/II trial[4].

关键词： sod1 patients amyotrophic

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

sod1基因突变合并SMN1基因异常重复所致运动神经元病1例

引用

中国神经精神疾病杂志 2022年第3期48卷 151-154页

作者：刘丽丽陈涓涓吴军林志坚胡俊北京大学深圳医院深圳518036

报告1例由sod1基因p.F64L(c.195T>A)突变合并SMN1基因异常重复导致的进行性肌萎缩患者的临床、病理及基因特点。收集患者临床及影像学资料。对患者左侧腓肠肌进行组织病理检查。通过二代测序+Sanger测序检测患者全外显子,利用多重连接... 详细信息

报告1例由sod1基因p.F64L(c.195T>A)突变合并SMN1基因异常重复导致的进行性肌萎缩患者的临床、病理及基因特点。收集患者临床及影像学资料。对患者左侧腓肠肌进行组织病理检查。通过二代测序+Sanger测序检测患者全外显子,利用多重连接探针扩增技术检测SMN1基因。患者男,53岁,因“肌肉萎缩伴乏力不适2年”入院。双侧小腿核磁提示双侧腓肠肌水肿。肌肉病理检查呈神经源性改变。基因结果提示该患者sod1基因存在一处杂合突变p.F64L,SMN1基因8号外显子区域异常重复变异。sod1基因p.F64L突变合并SMN1基因异常重复可引起运动神经元病进行性肌萎缩型,临床医生需重视基因检测在散发性运动神经元病患者诊断中的应用。

关键词：运动神经元病肌萎缩侧索硬化 sod1 SMN 病理

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：