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A: Pathogenic mechanisms最新文献

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A01 Somatic mosaicism of the HTT cag repeat in intermediate allele carriers with neurocognitive symptoms compatible with huntington disease A01在与亨廷顿病相容的神经认知症状的中间等位基因携带者中HTT cag重复序列的体细胞嵌合体
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.1
Ainara Ruiz de Sabando, M. Ciosi, A. Galbete, D. Monckton, M. Ramos-Arroyo
{"title":"A01 Somatic mosaicism of the HTT cag repeat in intermediate allele carriers with neurocognitive symptoms compatible with huntington disease","authors":"Ainara Ruiz de Sabando, M. Ciosi, A. Galbete, D. Monckton, M. Ramos-Arroyo","doi":"10.1136/jnnp-2022-ehdn.1","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.1","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"90 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":"122699446","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
A36 Neuropathological function of the TANK1-binding kinase 1 (TBK1) in mouse models of Huntington’s disease tank1结合激酶1 (TBK1)在亨廷顿病小鼠模型中的神经病理功能
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.36
I. Raya, Yasmin Douahem, D. Brenner, Rüstem Yilmaz, R. Cristofani, A. Poletti, V. Maglione, J. Weishaupt, R. Parlato
{"title":"A36 Neuropathological function of the TANK1-binding kinase 1 (TBK1) in mouse models of Huntington’s disease","authors":"I. Raya, Yasmin Douahem, D. Brenner, Rüstem Yilmaz, R. Cristofani, A. Poletti, V. Maglione, J. Weishaupt, R. Parlato","doi":"10.1136/jnnp-2022-ehdn.36","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.36","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"1 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":"129612632","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
A14 In silico investigation of HD proteins as a stepping-stone for untargeted proteomics analysis in cypriot hd patients HD蛋白的计算机研究作为塞浦路斯HD患者非靶向蛋白质组学分析的踏脚石
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.14
Christiana C. Christodoulou, Eleni Zamba Papanicolaou
{"title":"A14 In silico investigation of HD proteins as a stepping-stone for untargeted proteomics analysis in cypriot hd patients","authors":"Christiana C. Christodoulou, Eleni Zamba Papanicolaou","doi":"10.1136/jnnp-2022-ehdn.14","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.14","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"5 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":"131173752","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
A38 Exploring the interplay between gut microbiota and mutant HTT toxicity in drosophila melanogaster 研究黑腹果蝇肠道菌群与HTT突变毒性之间的相互作用
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.38
Jasmine Speranza, J. Ketley, F. Giorgini
{"title":"A38 Exploring the interplay between gut microbiota and mutant HTT toxicity in drosophila melanogaster","authors":"Jasmine Speranza, J. Ketley, F. Giorgini","doi":"10.1136/jnnp-2022-ehdn.38","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.38","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"1 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":"130308873","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
A07 CircHTT, a novel circular rna molecule from the huntington’s disease gene locus: functional characterization and pathophysiological implications A07 CircHTT，一种来自亨廷顿病基因位点的新型环状rna分子:功能表征和病理生理意义
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.7
J. Morandell, J. Döring, A. Monziani, C. Oss Pegorar, S. Ferrari, G. Bergonzoni, T. Tripathi, F. Di Leva, E. Kerschbamer, Vb Mattis, J. Rosati, C. Dieterich, E. Dassi, VC Wheeler, H. Hansíková, Z. Ellederová, J. Wilusz, M. Biagioli
{"title":"A07 CircHTT, a novel circular rna molecule from the huntington’s disease gene locus: functional characterization and pathophysiological implications","authors":"J. Morandell, J. Döring, A. Monziani, C. Oss Pegorar, S. Ferrari, G. Bergonzoni, T. Tripathi, F. Di Leva, E. Kerschbamer, Vb Mattis, J. Rosati, C. Dieterich, E. Dassi, VC Wheeler, H. Hansíková, Z. Ellederová, J. Wilusz, M. Biagioli","doi":"10.1136/jnnp-2022-ehdn.7","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.7","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"1 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":"130047465","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
A33 ADAM10 in Huntington’s disease synaptic dysfunctions A33 ADAM10在亨廷顿病突触功能障碍中的作用
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.33
E. Vezzoli, Andrea Scolz, M. Villa, E. Cattaneo, C. Zuccato
{"title":"A33 ADAM10 in Huntington’s disease synaptic dysfunctions","authors":"E. Vezzoli, Andrea Scolz, M. Villa, E. Cattaneo, C. Zuccato","doi":"10.1136/jnnp-2022-ehdn.33","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.33","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"96 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":"123438991","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
A06 Screening of gene expression and molecular changes in the knock-in minipig model of Huntington’s disease A06基因敲入型亨廷顿氏病小猪模型基因表达及分子变化的筛选
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.6
D. Sekáč, Kateryna Nemesh, J. Juhasova, Š. Juhás, Z. Ellederová
{"title":"A06 Screening of gene expression and molecular changes in the knock-in minipig model of Huntington’s disease","authors":"D. Sekáč, Kateryna Nemesh, J. Juhasova, Š. Juhás, Z. Ellederová","doi":"10.1136/jnnp-2022-ehdn.6","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.6","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"37 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":"114415584","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
A26 Investigating adipose tissue alterations in the R6/2 model of Huntington’s disease 研究亨廷顿病R6/2模型中脂肪组织的改变
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.26
Elna Dickson, Claes Fryklund, R. Soylu-Kucharz, Karin G. Stenkula, M. Björkqvist
{"title":"A26 Investigating adipose tissue alterations in the R6/2 model of Huntington’s disease","authors":"Elna Dickson, Claes Fryklund, R. Soylu-Kucharz, Karin G. Stenkula, M. Björkqvist","doi":"10.1136/jnnp-2022-ehdn.26","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.26","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":"128042584","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
A24 Mutant huntingtin impairs musculoskeletal and brain growth via disturbing testosterone biosynthesis in male huntington disease animals A24突变亨廷顿蛋白通过干扰雄性亨廷顿病动物的睾酮生物合成来损害肌肉骨骼和大脑的生长
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.24
L. Yu-Taeger, A. Novati, J. Weber, Elisabeth Singer-Mikosch, Anni Pabst, C. Saft, J. König, G. Ellrichmann, T. Heikkinen, M. Pouladi, O. Riess, H. Nguyen
{"title":"A24 Mutant huntingtin impairs musculoskeletal and brain growth via disturbing testosterone biosynthesis in male huntington disease animals","authors":"L. Yu-Taeger, A. Novati, J. Weber, Elisabeth Singer-Mikosch, Anni Pabst, C. Saft, J. König, G. Ellrichmann, T. Heikkinen, M. Pouladi, O. Riess, H. Nguyen","doi":"10.1136/jnnp-2022-ehdn.24","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.24","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"4 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":"133322809","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
A32 SIR-2.3/SIRT4 is a modulator of toxicity induced by polyglutamines in C. elegans A32 sir2.3 /SIRT4是一种多聚谷氨酰胺诱导的秀丽隐杆线虫毒性调节剂
A: Pathogenic mechanisms Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.32
C. Trujillo-Del Río, J. Tortajada-Pérez, M. Collado-Pérez, A. Carranza, A. P. Gómez-Escribano, J. Millán, R. Vázquez-Manrique
{"title":"A32 SIR-2.3/SIRT4 is a modulator of toxicity induced by polyglutamines in C. elegans","authors":"C. Trujillo-Del Río, J. Tortajada-Pérez, M. Collado-Pérez, A. Carranza, A. P. Gómez-Escribano, J. Millán, R. Vázquez-Manrique","doi":"10.1136/jnnp-2022-ehdn.32","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.32","url":null,"abstract":"","PeriodicalId":403341,"journal":{"name":"A: Pathogenic mechanisms","volume":"1 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":"130525293","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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