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Therapeutic advances in neural regeneration for huntington’s disease

Neural Regeneration Research 2024年第9期19卷 1991-1997页

作者： Francesco D’Egidio Vanessa Castelli Giorgia Lombardozzi Fabrizio Ammannito Annamaria Cimini Michele d’Angelo Department of Life Health and Environmental SciencesUniversity of L’AquilaL’AquilaItaly

huntington’s disease is a neurodegenerative disease caused by the expansion mutation of a cytosine-adenine-guanine triplet in the exon 1 of the HTT gene which is responsible for the production of the huntingtin (Htt) protein. In physiological conditions, Htt is involved in many cellular processes such as cell signaling, transcriptional regulation, energy metabolism regulation, DNA maintenance, axonal trafficking, and antiapoptotic activity. When the genetic alteration is present, the production of a mutant version of Htt (mHtt) occurs, which is characterized by a plethora of pathogenic activities that, finally, lead to cell death. Among all the cells in which mHtt exerts its dangerous activity, the GABAergic Medium spiny Neurons seem to be the most affected by the mHtt-induced excitotoxicity both in the cortex and in the striatum. However, as the neurodegeneration proceeds ahead the neuronal loss grows also in other brain areas such as the cerebellum, hypothalamus, thalamus, subthalamic nucleus, globus pallidus, and substantia nigra, determining the variety of symptoms that characterize huntington’s disease. From a clinical point of view, huntington’s disease is characterized by a wide spectrum of symptoms spanning from motor impairment to cognitive disorders and dementia. huntington’s disease shows a prevalence of around 3.92 cases every 100,000 worldwide and an incidence of 0.48 new cases every 100,000/year. To date, there is no available cure for huntington’s disease. several treatments have been developed so far, aiming to reduce the severity of one or more symptoms to slow down the inexorable decline caused by the disease. In this context, the search for reliable strategies to target the different aspects of huntington’s disease become of the utmost interest. In recent years, a variety of studies demonstrated the detrimental role of neuronal loss in huntington’s disease condition highlighting how the replacement of lost cells would be a reasonable strategy to o

关键词： cell therapy exosomes extracellular vesicles Huntingtin huntington’s disease medium spiny neurons neurodegenerative disease neurogenesis neuronal loss stem cells

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Emotion recognition and inhibitory control in manifest and pre-manifest huntington’s disease: evidence from a new stroop task

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Neural Regeneration Research 2020年第8期15卷 1518-1525页

作者： Thomas Hünefeldt sabrina Maffi simone Migliore Ferdinando squitieri Marta Olivetti Belardinelli sapienza University of Rome RomeItaly huntington and Rare diseases Unit Fondazione IRCCS Casa Sollievo della SofferenzaSan Giovanni RotondoItaly

huntington’s disease(HD)is a genetic neurodegenerative disorder that affects not only the motor but also the cognitive *** particular,cognitive symptoms such as impaired executive skills and deficits in recognizing other individuals’mental state may emerge many years before the motor *** study was aimed at testing two cognitive hypotheses suggested by previous research with a new stroop task created for the purpose:1)the impairment of emotion recognition in HD is moderated by the emotions’valence,and 2)inhibitory control is impaired in *** manifest and 20 pre-manifest HD patients and their age-and gender-matched controls completed both the traditional“stroop Color and Word Test”(sCWT)and the newly created“stroop Emotion Recognition under Word Interference Task”(sERWIT),which consist in 120 photographs of sad,calm,or happy faces with either congruent or incongruent word *** the sERWIT,impaired emotion recognition in manifest HD was moderated by emotion type,with deficits being larger in recognizing sadness and calmness than in recognizing happiness,but it was not moderated by stimulus *** the sCWT,six different interference scores yielded as many different patterns of group *** our results corroborate the hypothesis that impaired emotion recognition in HD is moderated by the emotions’valence,but do not provide evidence for the hypothesis that inhibitory control is impaired in *** research is needed to learn more about the psychological mechanisms underlying the moderating effect of emotional valence on impaired emotion recognition in HD,and to corroborate the hypothesis that the inhibitory processes involved in stroop tasks are not impaired in *** beyond this study,the sERWIT promises to make important contributions to disentangling the cognitive and the psychomotor aspects of neurological *** research was approved by the Ethics Committee of the“Istituto Leonarda Vaccari”,Rome on January 2

关键词： congruent word interference emotion recognition emotional valence huntington’s disease incongruent word interference inhibitory control stroop interference

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Mitochondria in huntington’s disease:implications in pathogenesis and mitochondrial-targeted therapeutic strategies

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Neural Regeneration Research 2023年第7期18卷 1472-1477页

作者： Anamaria Jurcau Carolina Maria Jurcau Department of Psycho-Neurosciences and Rehabilitation Faculty of Medicine and PharmacyUniversity of OradeaOradeaRomania Neurology 3 Ward Clinical Emergency Hospital OradeaRomania Faculty of Medicine and Pharmacy University of OradeaRomania

huntington’s disease is a genetic disease caused by expanded CAG repeats on exon 1 of the huntingtin gene located on chromosome *** evidence implicates impaired mitochondrial energetics,altered mitochondrial biogenesis and quality control,disturbed mitochondrial trafficking,oxidative stress and mitochondrial calcium dyshomeostasis in the pathogenesis of the ***,conventional mitochondrial-targeted molecules,such as cysteamine,creatine,coenzyme Q10,or triheptanoin,yielded negative or inconclusive ***,future therapeutic strategies,aiming to restore mitochondrial biogenesis,improving the fission/fusion balance,and improving mitochondrial trafficking,could prove useful tools in improving the phenotype of huntington’s disease and,used in combination with genome-editing methods,could lead to a cure for the disease.

关键词： antioxidants calcium homeostasis huntington’s disease mitochondrial biogenesis mitochondrial fission/fusion mitochondrial trafficking oxidative phosphorylation oxidative stress ss peptides therapeutic intervention

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Animal models of huntington's disease: implications in uncovering pathogenic mechanisms and developing therapies

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Acta Pharmacologica sinica 2006年第10期27卷 1287-1302页

作者： Lin-hui WANG~2 Zheng-hong QIN~(3,4) Departments of ~2Physiology and ~3Pharmacology,soochow University school of Medicine,suzhou 215123,China Department of Physiology Soochow University School of Medicine Suzhou China Department of Pharmacology Soochow University School of Medicine Suzhou China

huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder,which is caused by an abnormal expansion of Cytosine Adenine Guanine (CAG)trinucleotide repeat in the gene making huntingtin (Htt).Despite intensiveresearch efforts devoted to investigate molecular mechanisms of pathogenesis,effective therapy for this devastating disease is still not available at *** of various animal models of HD has offered alternative approachesin the study of HD molecular *** HD models,including chemical-induced models and genetic models,mimic some aspects of HD symptoms *** date,however,there is no ideal model which replicates all of theessential features of neuropathology and progressive motor and cognitive impair-ments of human *** a result,our understanding of molecular mechanisms ofpathogenesis in HD is still limited.A new model is needed in order to uncover thepathogenesis and to develop novel therapies for *** this review we discussedusefulness and limitations of various animal and cellular models of HD in uncov-ering molecular mechanisms of pathogenesis and developing novel therapies forHD.

关键词： huntington’s disease huntingtin neurodegeneration animal models

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CRIsPR-Based Genome-Editing Tools for huntington’s disease Research and Therapy

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Neuroscience Bulletin 2022年第11期38卷 1397-1408页

作者： Yiyang Qin shihua Li Xiao-Jiang Li su Yang Guangdong Key Laboratory of Non-human Primate Research Guangdong-Hongkong-Macao Institute of CNS RegenerationJinan UniversityGuangzhou 510632China

huntington’s disease(HD)is an autosomal dominantly-inherited neurodegenerative disease,which is caused by CAG trinucleotide expansion in exon 1 of the Huntingtin(HTT)*** HD is a rare disease,its monogenic nature makes it an ideal model in which to understand pathogenic mechanisms and to develop therapeutic strategies for neurodegenerative *** regularly-interspaced short palindromic repeats(CRIsPR)is the latest technology for genome *** simple to use and highly efficient,CRIsPR-based genome-editing tools are rapidly gaining popularity in biomedical research and opening up new avenues for disease ***,we review the development of CRIsPR-based genome-editing tools and their applications in HD research to offer a translational perspective on advancing the genome-editing technology to HD treatment.

关键词： huntington’s disease CRIsPR Animal models

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Altered microRNA expression in animal models of huntington’s disease and potential therapeutic strategies

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Neural Regeneration Research 2021年第11期16卷 2159-2169页

作者： Bridget Martinez Philip V.Peplow Physical Chemistry and Applied spectroscopy Chemistry DivisionLos Alamos National LaboratoryLos AlamosNMUSA Department of Medicine St.Georges University School of MedicineGrenada Department of Anatomy University of OtagoDunedinNew Zealand

A review of recent animal models of huntington’s disease showed many microRNAs had altered expression levels in the striatum and cerebral cortex,and which were mostly *** the altered microRNAs were miR-9/9*,miR-29b,miR-124a,miR-132,miR-128,miR-139,miR-122,miR-138,miR-23b,miR-135b,miR-181(all downregulated)and miR-448(upregulated),and similar changes had been previously found in huntington’s disease *** the animal cell studies,the altered microRNAs included miR-9,miR-9*,miR-135b,miR-222(all downregulated)and miR-214(upregulated).In the animal models,overexpression of miR-155 and miR-196a caused a decrease in mutant huntingtin mRNA and protein level,lowered the mutant huntingtin aggregates in striatum and cortex,and improved performance in behavioral *** performance in behavioral tests also occurred with overexpression of miR-132 and *** the animal cell models,overexpression of miR-22 increased the viability of rat primary cortical and striatal neurons infected with mutant huntingtin and decreased huntingtin-enriched foci of≥2μ***,overexpression of miR-22 enhanced the survival of rat primary striatal neurons treated with 3-nitropropionic *** expression of miR-214,miR-146a,miR-150,and miR-125b decreased endogenous expression of huntingtin mRNA and protein in HdhQ111/HdhQ111 *** studies with animal models of huntington’s disease are warranted to validate these findings and identify specific microRNAs whose overexpression inhibits the production of mutant huntingtin protein and other harmful processes and may provide a more effective means of treating huntington’s disease in patients and slowing its progression.

关键词： animal model cerebral cortex huntingtin huntington’s disease microRNA neurodegeneration striatum therapeutic strategies

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RNAi mechanisms in huntington’s disease therapy:siRNA versus shRNA

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Translational Neurodegeneration 2017年第1期6卷 300-309页

作者： sebastian Aguiar Bram van der Gaag Francesco Albert Bosco Cortese Molecular Neuroscience Laboratory Swammerdam Institute for Life Sciences(SILS-CNS)University of AmsterdamAmsterdamNetherlands Fulbright Program US Department of State(IIE)New York CityNYUSA Department of Neurobiology Care Sciences and SocietyKarolinska InstituteStockholmSweden Biogerontology Research Foundation(BGRF) OxfordUK Department of Biomedical and Molecular sciences Queen’s University School of MedicineQueen’s UniversityKingstonCanada

huntington’s disease(HD)is a genetically dominant trinucleotide repeat disorder resulting from CAG repeats within the Huntingtin(HTT)gene exceeding a normal range(>36 CAGs).symptoms of the disease manifest in middle age and include chorea,dystonia,and cognitive *** latency from diagnosis to death is 20 *** are currently no disease-modifying therapies available to HD *** is a potentially curative therapy for HD.A popular line of research employs siRNA or antisense oligonucleotides(AsO)to knock down mutant Huntingtin mRNA(mHTT).Unfortunately,this modality requires repeated dosing,commonly exhibit off target effects(OTEs),and exert renal and hepatic *** contrast,a single AAV-mediated short-hairpin RNA(shRNA)dose can last years with low *** addition,we highlight research indicating that shRNA elicits fewer OTEs than siRNA when tested *** this promise,shRNA therapy has been held back by difficulties controlling expression(oversaturating cells with toxic levels of RNA construct).In this review,we compare RNAi modalities for HD and propose novel methods of optimizing shRNA expression and on-target fidelity.

关键词： RNAi shRNA siRNA huntington’s disease Off-target effects Huntingtin silencing

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Integrated analysis on transcriptome and behaviors defines HTT repeat-dependent network modules in huntington's disease

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Genes & diseases 2022年第2期9卷 479-493页

作者： Lulin Huang Li Fang Qian Liu Abolfazl Doostparast Torshizi Kai Wang The Key Laboratory for Human disease Gene study of sichuan Province Department of Clinical LaboratorySichuan Provincial People's HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaChengduSichuan 610054PR China Raymond G.Perelman Center for Cellular and Molecular Therapeutics Children's Hospital of PhiladelphiaPhiladelphiaPA 19104USA

huntington's disease(HD)is caused by a CAG repeat expansion in the huntingtin(HTT)***-in mice carrying a CAG repeat-expanded Htt will develop HD *** studies suggested dysregulated molecular networks in a CAG length genotype-and the age-dependent manner in brain tissues from knock-in mice carrying expanded Htt CAG ***,a large-scale phenome analysis defined a behavioral signature for HD genotype in knock-in mice carrying expanded Htt CAG ***,an integrated analysis correlating phenotype features with genotypes(CAG repeat expansions)was not conducted *** this study,we revealed the landscape of the behavioral features and gene expression correlations based on 445 mRNA samples and 445 microRNA samples,together with behavioral features(396 PhenoCube behaviors and 111 NeuroCube behaviors)in Htt CAG-knock-in *** identified 37 behavioral features that were significantly associated with CAG repeat length including the number of steps and hind limb stand *** behavioral features were associated with several gene coexpression groups involved in neuronal dysfunctions,which were also supported by the single-cell RNA sequencing data in the striatum and the spatial gene expression in the *** also identified 15 chemicals with significant responses for genes with enriched behavioral features,most of them are agonist or antagonist for dopamine receptors and serotonin receptors used for neurology/*** study provides further evidence that abnormal neuronal signal transduction in the striatum plays an important role in causing HD-related phenotypic behaviors and provided rich information for the further pharmacotherapeutic intervention possibility for HD.

关键词： Behaviors CAG repeat huntington’s disease Mice single-cell RNA sequencing small chemicals striatum Transcriptome

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Comparison of cognitive and UHDRs measures in monitoring disease progression in huntington’s disease: a 12-month longitudinal study

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Translational Neurodegeneration 2014年第1期3卷 109-118页

作者： Eng A Toh Michael R MacAskill John C Dalrymple-Alford Daniel J Myall Leslie Livingston sandy AD Macleod Tim J Anderson Department of Medicine Christchurch School of Medicine&Health SciencesUniversity of OtagoChristchurchNew Zealand New Zealand Brain Research Institute ChristchurchNew Zealand Department of Psychology University of CanterburyChristchurchNew Zealand Brain Injury Rehabilitation service Canterbury District Health BoardChristchurchNew Zealand Department of Neurology Canterbury District Health BoardChristchurchNew Zealand

Progressive cognitive decline is a feature of huntington’s disease(HD),an inherited neurodegenerative movement *** neuropsychological testing is the‘gold standard’to establish cognitive status but is often impractical in time-constrained *** study evaluated the utility of brief cognitive tests(MMsE and MoCA),UHDRs measures and a comprehensive neuropsychological tests battery in monitoring short-term disease progression in ***-two manifest HD patients and 22 matched controls were assessed at baseline and 12-month.A linear mixed-effect model showed that although the HD group had minimal change in overall global cognition after 12 months,they did show a significant decline relative to the control *** controls exhibited a practice effect in most of the cognitive domain scores over *** decline at 12-month in HD was found in the executive function domain but the effect of this on global cognitive score was masked by the improvement in their language domain *** varying practice effects by cognitive domain with repeated testing indicates the importance of comparing HD patients to control group in research trials and that cognitive progression over 12 months in HD should not be judged by changes in global cognitive *** three brief cognitive tests effectively described cognition of HD patients on cross-sectional *** UHDRs cognitive component,which focuses on testing executive function and had low variance over time,is a more reliable brief substitute for comprehensive neuropsychological testing than MMsE and MoCA in monitoring cognitive changes in HD patients after 12 months.

关键词： huntington’s disease disease progression Cognition UHDRs Longitudinal

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Linguistic Characteristics of Mandarin-speaking huntington’s disease Patients

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Chinese Medical sciences Journal 2020年第3期35卷 207-214页

作者： Liling Dong Caiyan Liu Chenhui Mao shanshan Chu Jie Li Xinying Huang Jing Gao Department of Neurology Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

Objective Linguistic problem is common in huntington’s disease(HD)*** has been studied before in native speakers of alphabetic languages,such as *** a hieroglyphic language,Chinese differs from alphabetic languages in terms of phonology,morphology,semantics and *** aimed to investigate the linguistic characteristics of manifest HD in native speakers of ***,we expected to explore the linguistic differences associated with cortical or subcortical *** Five HD patients and five Alzheimer’s disease(AD)patients matched in age,gender,disease course and educational level were *** the participants were Mandarin native *** finished history inquiry,physical examination,basic test,genetic test and neuropsychological *** evaluation was performed by Aphasia Battery of *** HD patients had a mean disease course of 5.4±2.97(range,2-10)*** showed a linguistic disorder close to transcortical motor *** exhibited prominent phonological impairment,as well as slight semantic and syntactic *** errors were found in *** structural errors and substitutions were detected in *** comparison,AD patients showed a more severe linguistic impairment,characterized by global aphasia with more semantic *** Mandarin-speaking HD patients have a transcortical motor aphasia-like disturbance with prominent phonological impairment,whereas AD patients have a more severe global aphasia with salient semantic impairment.

关键词： huntington’s disease Alzheimer’s disease transcortical motor aphasia

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