Journal of Huntington's disease最新文献_第7页

Upcoming Meetings Related to Huntington's Disease. 即将召开的与亨廷顿舞蹈病相关的会议。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-04-27 DOI: 10.3233/JHD-239000

引用次数: 0

Upcoming Meetings Related to Huntington's Disease. 即将举行的亨廷顿氏症相关会议。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-239007

引用次数: 0

Huntington's Disease Clinical Trials Corner: August 2023. 亨廷顿氏病临床试验角:2023年8月。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-239001

Carlos Estevez-Fraga, Sarah J Tabrizi, Edward J Wild

引用次数: 0

Abstracts of the 30th Annual Meeting of the Huntington Study Group®, November 2-4, 2023. 亨廷顿研究小组第30届年会摘要®，2023年11月2-4日。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD239005

引用次数: 0

Sleep and Circadian Rhythm Dysfunction in Animal Models of Huntington's Disease. 亨廷顿舞蹈病动物模型的睡眠和昼夜节律障碍

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-230574

A Jennifer Morton

引用次数: 1

Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington's Disease. 上调伴侣介导的自噬可能在降低亨廷顿舞蹈症癌症发病率中发挥关键作用。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-230586

Lis Frydenreich Hasholt

{"title":"Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington's Disease.","authors":"Lis Frydenreich Hasholt","doi":"10.3233/JHD-230586","DOIUrl":"10.3233/JHD-230586","url":null,"abstract":"Incidence of cancer is markedly reduced in patients with the hereditary neurodegenerative polyglutamine (polyQ) diseases. We have very poor knowledge of the underlying molecular mechanisms, but the expanded polyQ sequence is assumed to play a central role, because it is common to the respective disease related proteins. The inhibition seems to take place in all kinds of cells, because the lower cancer frequency applies to nearly all types of tumors and is not related with the characteristic pathological changes in specific brain tissues. Further, the cancer repressing mechanisms appear to be active early in life including in pre-symptomatic and early phase polyQ patients. Autophagy plays a central role in clearing proteins with expanded polyQ tracts, and autophagy modulation has been demonstrated and particularly investigated in Huntington's disease (HD). Macroautophagy may be dysfunctional due to defects in several steps of the process, whereas increased chaperone-mediated autophagy (CMA) has been shown in HD patients, cell and animal models. Recently, CMA is assumed to play a key role in prevention of cellular transformation of normal cells into cancer cells. Investigations of normal cells from HD and other polyQ carriers could therefore add further insight into the protective mechanisms of CMA in tumorigenesis, and be important for development of autophagy based strategies to prevent malignant processes leading to cancer and neurodegeneration.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"371-376"},"PeriodicalIF":3.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11091607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71482402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Upcoming Meetings Related to Huntington's Disease. 即将召开的与亨廷顿舞蹈病相关的会议。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-239004

引用次数: 0

Understanding Sleep Regulation in Normal and Pathological Conditions, and Why It Matters. 理解正常和病理状态下的睡眠调节，以及为什么它很重要。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-230564

Mathieu Nollet, Nicholas P Franks, William Wisden

{"title":"Understanding Sleep Regulation in Normal and Pathological Conditions, and Why It Matters.","authors":"Mathieu Nollet, Nicholas P Franks, William Wisden","doi":"10.3233/JHD-230564","DOIUrl":"https://doi.org/10.3233/JHD-230564","url":null,"abstract":"Sleep occupies a peculiar place in our lives and in science, being both eminently familiar and profoundly enigmatic. Historically, philosophers, scientists and artists questioned the meaning and purpose of sleep. If Shakespeare's verses from MacBeth depicting \"Sleep that soothes away all our worries\" and \"relieves the weary laborer and heals hurt minds\" perfectly epitomize the alleviating benefits of sleep, it is only during the last two decades that the growing understanding of the sophisticated sleep regulatory mechanisms allows us to glimpse putative biological functions of sleep. Sleep control brings into play various brain-wide processes occurring at the molecular, cellular, circuit, and system levels, some of them overlapping with a number of disease-signaling pathways. Pathogenic processes, including mood disorders (e.g., major depression) and neurodegenerative illnesses such Huntington's or Alzheimer's diseases, can therefore affect sleep-modulating networks which disrupt the sleep-wake architecture, whereas sleep disturbances may also trigger various brain disorders. In this review, we describe the mechanisms underlying sleep regulation and the main hypotheses drawn about its functions. Comprehending sleep physiological orchestration and functions could ultimately help deliver better treatments for people living with neurodegenerative diseases.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"12 2","pages":"105-119"},"PeriodicalIF":3.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/f8/jhd-12-jhd230564.PMC10473105.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10515223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Metabolomic Analysis of Plasma in Huntington's Disease Transgenic Sheep (Ovis aries) Reveals Progressive Circadian Rhythm Dysregulation. 亨廷顿氏病转基因绵羊(Ovis aries)血浆代谢组学分析揭示进行性昼夜节律失调

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-220552

Matt Spick, Thomas P M Hancox, Namrata R Chowdhury, Benita Middleton, Debra J Skene, A Jennifer Morton

{"title":"Metabolomic Analysis of Plasma in Huntington's Disease Transgenic Sheep (Ovis aries) Reveals Progressive Circadian Rhythm Dysregulation.","authors":"Matt Spick, Thomas P M Hancox, Namrata R Chowdhury, Benita Middleton, Debra J Skene, A Jennifer Morton","doi":"10.3233/JHD-220552","DOIUrl":"https://doi.org/10.3233/JHD-220552","url":null,"abstract":"Background: Metabolic abnormalities have long been predicted in Huntington's disease (HD) but remain poorly characterized. Chronobiological dysregulation has been described in HD and may include abnormalities in circadian-driven metabolism.Objective: Here we investigated metabolite profiles in the transgenic sheep model of HD (OVT73) at presymptomatic ages. Our goal was to understand changes to the metabolome as well as potential metabolite rhythm changes associated with HD.Methods: We used targeted liquid chromatography mass spectrometry (LC-MS) metabolomics to analyze metabolites in plasma samples taken from female HD transgenic and normal (control) sheep aged 5 and 7 years. Samples were taken hourly across a 27-h period. The resulting dataset was investigated by machine learning and chronobiological analysis.Results: The metabolic profiles of HD and control sheep were separable by machine learning at both ages. We found both absolute and rhythmic differences in metabolites in HD compared to control sheep at 5 years of age. An increase in both the number of disturbed metabolites and the magnitude of change of acrophase (the time at which the rhythms peak) was seen in samples from 7-year-old HD compared to control sheep. There were striking similarities between the dysregulated metabolites identified in HD sheep and human patients (notably of phosphatidylcholines, amino acids, urea, and threonine).Conclusion: This work provides the first integrated analysis of changes in metabolism and circadian rhythmicity of metabolites in a large animal model of presymptomatic HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"12 1","pages":"31-42"},"PeriodicalIF":3.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9665059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Implications of Tau Dysregulation in Huntington's Disease and Potential for New Therapeutics. Tau蛋白失调在亨廷顿病中的意义和新疗法的潜力。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-230569

Isaline Mees, Rebecca Nisbet, Anthony Hannan, Thibault Renoir

{"title":"Implications of Tau Dysregulation in Huntington's Disease and Potential for New Therapeutics.","authors":"Isaline Mees, Rebecca Nisbet, Anthony Hannan, Thibault Renoir","doi":"10.3233/JHD-230569","DOIUrl":"https://doi.org/10.3233/JHD-230569","url":null,"abstract":"Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. The disease, characterized by motor, cognitive, and psychiatric impairments, is caused by the expansion of a CAG repeat in the huntingtin gene. Despite the discovery of the mutation in 1993, no disease-modifying treatments are yet available. Understanding the molecular and cellular mechanisms involved in HD is therefore crucial for the development of novel treatments. Emerging research has found that HD might be classified as a secondary tauopathy, with the presence of tau insoluble aggregates in late HD. Increased total tau protein levels have been observed in both HD patients and animal models of HD. Tau hyperphosphorylation, the main feature of tau pathology, has also been investigated and our own published results suggest that the protein phosphorylation machinery is dysregulated in the early stages of HD in R6/1 transgenic mice, primarily in the cortex and striatum. Protein phosphorylation, catalysed by kinases, regulates numerous cellular mechanisms and has been shown to be dysregulated in other neurodegenerative disorders, including Alzheimer's disease. While it is still unclear how the mutation in the huntingtin gene leads to tau dysregulation in HD, several hypotheses have been explored. Evidence suggests that the mutant huntingtin does not directly interact with tau, but instead interacts with tau kinases, phosphatases, and proteins involved in tau alternative splicing, which could result in tau dysregulation as observed in HD. Altogether, there is increasing evidence that tau is undergoing pathological changes in HD and may be a good therapeutic target.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"12 1","pages":"1-13"},"PeriodicalIF":3.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5e/fe/jhd-12-jhd230569.PMC10200226.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9666901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2