期刊
TRENDS IN NEUROSCIENCES
卷 41, 期 7, 页码 457-469出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tins.2018.04.002
关键词
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资金
- National Institutes of Health [R37NS057553, R01NS101986, R01NS093097]
- Packard Center for ALS Research
- MDA Foundation
- Target ALS Foundation
- Frick Foundation for ALS Research
- Alzheimer's Association [NIRG-396129]
GGGGCC (G(4)C(2)) repeat expansion in C9ORF72 is the most common genetic cause of ALS and FTD. An important issue is how repeat RNAs and their translation products, various dipeptide repeat (DPR) proteins, cause neuro-degeneration. Drosophila has been widely used to model G(4)C(2) repeat RNA and DPR protein toxicity. Overexpression of disease molecules in flies has revealed important molecular insights. These have been validated and further explored in human neurons differentiated from induced pluripotent stem cells (iPSCs), a disease-relevant model in which expanded G(4)C(2) repeats are expressed in their native molecular context. Approaches that combine the genetic power of Drosophila and the disease relevance of iPSC-derived patient neurons will continue to unravel the underlying pathogenic mechanisms and help identify potential therapeutic targets in C9ORF72-ALS/FTD.
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