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Citation
Yuva-Aydemir, Y., Almeida, S., Gao, F.B. (2018). Insights into C9ORF72-Related ALS/FTD from Drosophila and iPSC Models.  Trends Neurosci. 41(7): 457--469.
FlyBase ID
FBrf0239274
Publication Type
Review
Abstract

GGGGCC (G4C2) 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 neurodegeneration. Drosophila has been widely used to model G4C2 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 G4C2 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.

PubMed ID
PubMed Central ID
PMC6015541 (PMC) (EuropePMC)
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    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Trends Neurosci.
    Title
    Trends in Neurosciences
    Publication Year
    1978-
    ISBN/ISSN
    0166-2236
    Data From Reference
    Genes (7)
    Human Disease Models (1)