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A: Pathogenic mechanisms最新文献

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A34 NADPH oxidases putative roles in Huntington’s disease A34 NADPH氧化酶在亨廷顿病中的推测作用
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.34
L. Duque, Izabela Rasmussen, A. Nørremølle, F. Vilhardt, K. Freude
{"title":"A34 NADPH oxidases putative roles in Huntington’s disease","authors":"L. Duque, Izabela Rasmussen, A. Nørremølle, F. Vilhardt, K. Freude","doi":"10.1136/jnnp-2022-ehdn.34","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.34","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"211 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122809700","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: 0
A20 Reduced levels of the glucose transporter glut-1 in brain striatum and periphery reveals clues to specific pathomechanisms in childhood-onset Huntington disease 脑纹状体和外周葡萄糖转运蛋白glut-1水平的降低揭示了儿童期亨廷顿病发病的特定病理机制
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.20
Federica Perrone, Hannah S. Bakels, Antonella Tramutola, M. Nottia, Maria Pia Abruzzese, Martina Zoccola, R. Carrozzo, Susanne T de Bot, M. Perluigi, W. V. Roon-Mom, F. Squitieri
{"title":"A20 Reduced levels of the glucose transporter glut-1 in brain striatum and periphery reveals clues to specific pathomechanisms in childhood-onset Huntington disease","authors":"Federica Perrone, Hannah S. Bakels, Antonella Tramutola, M. Nottia, Maria Pia Abruzzese, Martina Zoccola, R. Carrozzo, Susanne T de Bot, M. Perluigi, W. V. Roon-Mom, F. Squitieri","doi":"10.1136/jnnp-2022-ehdn.20","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.20","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129367156","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: 0
A30 The effect of mutant huntingtin expression on the dynamics of the mitochondrial respiratory chain function 突变体huntingtin表达对线粒体呼吸链功能动态的影响
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.30
Franziska Hoschek, K. Kojer, Mirjam Skobowsky, N. Birth, A. Neueder, M. Orth
{"title":"A30 The effect of mutant huntingtin expression on the dynamics of the mitochondrial respiratory chain function","authors":"Franziska Hoschek, K. Kojer, Mirjam Skobowsky, N. Birth, A. Neueder, M. Orth","doi":"10.1136/jnnp-2022-ehdn.30","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.30","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129400718","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: 0
A23 Skeletal muscle regeneration is altered in the r6/2 mouse model of Huntington’s disease A23骨骼肌再生在亨廷顿病的r6/2小鼠模型中发生改变
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.23
R. Soylu-Kucharz, S. Hoque, V. Allamand, M. Sjögren, K. Gawlik, Naomi Franke, M. Durbeej-Hjalt, M. Björkqvist
{"title":"A23 Skeletal muscle regeneration is altered in the r6/2 mouse model of Huntington’s disease","authors":"R. Soylu-Kucharz, S. Hoque, V. Allamand, M. Sjögren, K. Gawlik, Naomi Franke, M. Durbeej-Hjalt, M. Björkqvist","doi":"10.1136/jnnp-2022-ehdn.23","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.23","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"73 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123051151","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: 0
A03 Alternative processing of human HTT MRNA in YAC128 mice: implications for Huntington’s disease therapeutics 在YAC128小鼠中人类HTT MRNA的替代加工:对亨廷顿病治疗的影响
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.3
Sandra Fieńko, C. Landles, K. Sathasivam, Casandra Gomez-Paredes, Sean J McAteer, Rebecca E Milton, Georgina F Osborne, Samuel T Jones, Jemima M Phillips, H. Kordasiewicz, G. Bates
{"title":"A03 Alternative processing of human HTT MRNA in YAC128 mice: implications for Huntington’s disease therapeutics","authors":"Sandra Fieńko, C. Landles, K. Sathasivam, Casandra Gomez-Paredes, Sean J McAteer, Rebecca E Milton, Georgina F Osborne, Samuel T Jones, Jemima M Phillips, H. Kordasiewicz, G. Bates","doi":"10.1136/jnnp-2022-ehdn.3","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.3","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127926232","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: 0
A31 Early mitochondrial dysfunction in peripheral blood mononuclear cells in progression of Huntington´s disease A31亨廷顿病进展中外周血单核细胞早期线粒体功能障碍
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.31
Hana Štufková, M. Pasák, D. Sedláčková, M. Vanišová, J. Roth, I. Lišková, Eikenes Marte, L. Eide, J. Klempír, H. Hansíková
{"title":"A31 Early mitochondrial dysfunction in peripheral blood mononuclear cells in progression of Huntington´s disease","authors":"Hana Štufková, M. Pasák, D. Sedláčková, M. Vanišová, J. Roth, I. Lišková, Eikenes Marte, L. Eide, J. Klempír, H. Hansíková","doi":"10.1136/jnnp-2022-ehdn.31","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.31","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125748442","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: 0
A19 Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington’s disease 催产素神经元中突变的亨廷顿蛋白对亨廷顿病非运动特征的影响
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.19
Sofia Bergh, S. Gabery, Simone Tonetto, Å. Petersén, R. Cheong
{"title":"A19 Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington’s disease","authors":"Sofia Bergh, S. Gabery, Simone Tonetto, Å. Petersén, R. Cheong","doi":"10.1136/jnnp-2022-ehdn.19","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.19","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125631676","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: 0
A39 Precision machine-learning identifies a new paradigm along with a target database for therapeutic discovery in Huntington’s disease: molecular reprogramming to re-instate neuronal health and resilience A39精密机器学习为亨廷顿舞蹈病的治疗发现确定了一个新的范式和目标数据库:分子重编程以恢复神经元的健康和恢复能力
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.39
L. Mégret, B. Gris, S. Sasidharan Nai, J. Cevost, M. Wertz, J. Aaronson, J. Rosinski, TF Vogt, H. Wilkinson, M. Heiman, C. Néri
{"title":"A39 Precision machine-learning identifies a new paradigm along with a target database for therapeutic discovery in Huntington’s disease: molecular reprogramming to re-instate neuronal health and resilience","authors":"L. Mégret, B. Gris, S. Sasidharan Nai, J. Cevost, M. Wertz, J. Aaronson, J. Rosinski, TF Vogt, H. Wilkinson, M. Heiman, C. Néri","doi":"10.1136/jnnp-2022-ehdn.39","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.39","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127626954","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: 0
A04 Role of RNA M6A modification in post-transcriptional regulation of mutant huntingtin expression A04 RNA M6A修饰在突变型亨廷顿蛋白表达转录后调控中的作用
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.4
Anika Pupak, Irene Rodríguez-Navarro, Ankita Singh, Ulf Vang Ørom, J. Alberch, S. Ginés, V. Brito
{"title":"A04 Role of RNA M6A modification in post-transcriptional regulation of mutant huntingtin expression","authors":"Anika Pupak, Irene Rodríguez-Navarro, Ankita Singh, Ulf Vang Ørom, J. Alberch, S. Ginés, V. Brito","doi":"10.1136/jnnp-2022-ehdn.4","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.4","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134050968","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: 0
A15 Investigating the mutli-omic impact of huntingtin aggregates on the D. elanogaster brain 研究亨廷顿蛋白聚集体对黑腹龙大脑的多基因组影响
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.15
Megan Bonsor, E. Wanker, Anne Ast
{"title":"A15 Investigating the mutli-omic impact of huntingtin aggregates on the D. elanogaster brain","authors":"Megan Bonsor, E. Wanker, Anne Ast","doi":"10.1136/jnnp-2022-ehdn.15","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.15","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124504388","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: 0
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