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• W2802377579 endingPage "469" @default.
• W2802377579 startingPage "457" @default.
• W2802377579 abstract "The toxicity of expanded G4C2 repeats in Drosophila models is influenced by their molecular context. DPR proteins, but not RNA foci, are major toxic molecules in Drosophila models of G4C2 repeat expansion. Nucleocytoplasmic transport defects are found in both Drosophila models of G4C2 repeat expansion and neurons derived from C9ORF72 iPSCs. Multiple interconnected molecular pathways are dysregulated in C9ORF72-ALS/FTD, such as autophagy, stress granule dynamics, oxidative stress DNA damage, nucleolar stress, and neuronal excitability. Experimental approaches that combine the genetic power of Drosophila and the disease relevance of iPSC-derived patient neurons are excellent strategies to help uncover pathogenic mechanisms in C9ORF72-ALS/FTD. 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. 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." @default.
• W2802377579 created "2018-05-17" @default.
• W2802377579 creator A5003520734 @default.
• W2802377579 creator A5066319217 @default.
• W2802377579 creator A5081263370 @default.
• W2802377579 date "2018-07-01" @default.
• W2802377579 modified "2023-10-15" @default.
• W2802377579 title "Insights into C9ORF72-Related ALS/FTD from Drosophila and iPSC Models" @default.
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