图 书 馆
ALS和FTD的RNA结合蛋白和蛋白结合RNARNA binding proteins and protein binding RNAs in ALS and FTD |
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| 课程网址: | http://videolectures.net/snc2015_rogelj_protein_binding/# |
| 主讲教师: | Boris Rogelj |
| 开课单位: | 约瑟夫·斯特凡学院 |
| 开课时间: | 2015-10-01 |
| 课程语种: | 英语 |
| 中文简介: |  |
| 课程简介: | GGGGCC hexanucleotide repeat expansion mutation (HREM) in non-coding region of C9ORF72 gene has recently been identified as the most common genetic cause of devastating incurable neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The disease relevant function of mutation is not clear. HREM may enable the formation of complex DNA and RNA structures, changes in RNA transcription and processing and formation of toxic RNA foci, which may sequester and inactivate RNA binding proteins. This complexity is further increased by the fact that expanded repeat is also transcribed in the antisense direction forming the CCCCGG (C4G2) repeat. According to some reports the antisense HREM transcript is even more abundant than the sense transcript. Additionally, the transcribed expanded repeats from both directions can undergo repeat-associated non-ATG-initiated (RAN) translation resulting in accumulation and aggregation of a series of dipeptide repeat proteins. Finally, HREM may also lead to haploinsufficiency of the C9orf72 protein. RNA pull-down study identifying some of the binding partners of GGGGCC repeat will be presented along with structural studies of the repeat DNA, which forms G-quadruplex structures. |
| 关 键 词: | 神经退行性疾病肌萎缩性侧索硬化; 额颞叶变性基因 |
| 课程来源: | 视频讲座网 |
| 数据采集: | 2020-12-21：yxd |
| 最后编审: | 2021-01-08：yumf |
| 阅读次数: | 73 |