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• W2550962588 abstract "Background: ALS is an incurable late onset neurodegenerative disease that is characterised by progressive loss of motor neurons. A (G4C2)n repeat expansion in C9ORF72 is the most common genetic cause of ALS, but it is unknown how the repeat causes pathogenesis, although a gain of toxic function is likely.Aims and Objectives: 1) Generate stable, isogenic motor neuron-like NSC34 cellular models that have tetracycline-inducible (G4C2)n repeat expression. 2) Characterise the cell models for C9ORF72-ALS pathology and biochemical alterations. 3) Identify biological functions and pathways that may be transcriptionally dysregulated by (G4C2)n repeat expression early in C9ORF72-ALS pathogenesis.Results: Stable, isogenic NSC34 cell models with tetracycline-inducible (G4C2)n expression were successfully generated. Sense RNA foci and RAN translation products were detected in the cell models. No antisense derived RNA foci or RAN translation products were detected. Expression of the (G4C2)102 caused subtle toxicity and recapitulated some aspects of C9ORF72-ALS pathology in the NSC34 (G4C2)102. The (G4C2)102 expression caused transcriptomic dysregulation in RNA metabolism, protein transport, and also caused splicing alterations.Conclusions: Stable, isogenic motor neuron-like cellular models that had tetracycline-inducible (G4C2)n expression were successfully generated, and allowed interrogation of the early biochemical effects associated with sense only (G4C2)n expression in a reductionist manner. Transcriptomic analysis of the NSC34 (G4C2)102 identified dysregulation in RNA splicing, which was corroborated by transcriptomic data from C9ORF72-ALS patient CNS tissue." @default.
• W2550962588 created "2016-11-30" @default.
• W2550962588 creator A5000029365 @default.
• W2550962588 date "2016-08-01" @default.
• W2550962588 modified "2023-09-23" @default.
• W2550962588 title "Development of a cellular model for C9ORF72-related Amyotrophic Lateral Sclerosis" @default.
• W2550962588 cites W1156694323 @default.
• W2550962588 cites W1509912990 @default.
• W2550962588 cites W1533438796 @default.
• W2550962588 cites W1646724563 @default.
• W2550962588 cites W1710904042 @default.
• W2550962588 cites W1779920453 @default.
• W2550962588 cites W1893585873 @default.
• W2550962588 cites W1918177142 @default.
• W2550962588 cites W193161715 @default.
• W2550962588 cites W1963555897 @default.
• W2550962588 cites W1964564232 @default.
• W2550962588 cites W1965654940 @default.
• W2550962588 cites W1968615349 @default.
• W2550962588 cites W1971113553 @default.
• W2550962588 cites W1977069725 @default.
• W2550962588 cites W1978569326 @default.
• W2550962588 cites W1979375884 @default.
• W2550962588 cites W1982356267 @default.
• W2550962588 cites W1984538960 @default.
• W2550962588 cites W1987060533 @default.
• W2550962588 cites W1987210736 @default.
• W2550962588 cites W1991660507 @default.
• W2550962588 cites W1992002234 @default.
• W2550962588 cites W1995222212 @default.
• W2550962588 cites W2009030515 @default.
• W2550962588 cites W2010233410 @default.
• W2550962588 cites W2012851706 @default.
• W2550962588 cites W2016332933 @default.
• W2550962588 cites W2018110972 @default.
• W2550962588 cites W2021988387 @default.
• W2550962588 cites W2022159597 @default.
• W2550962588 cites W2023565105 @default.
• W2550962588 cites W2028768619 @default.
• W2550962588 cites W2033158384 @default.
• W2550962588 cites W2034717030 @default.
• W2550962588 cites W2040678584 @default.
• W2550962588 cites W2045151039 @default.
• W2550962588 cites W2053040219 @default.
• W2550962588 cites W2053073281 @default.
• W2550962588 cites W2055729918 @default.
• W2550962588 cites W2060076138 @default.
• W2550962588 cites W2061098625 @default.
• W2550962588 cites W2061194981 @default.
• W2550962588 cites W2065516118 @default.
• W2550962588 cites W2066002405 @default.
• W2550962588 cites W2067752257 @default.
• W2550962588 cites W2068410472 @default.
• W2550962588 cites W2069781018 @default.
• W2550962588 cites W2070254246 @default.
• W2550962588 cites W2071591138 @default.
• W2550962588 cites W2072204165 @default.
• W2550962588 cites W2072981065 @default.
• W2550962588 cites W2075691498 @default.
• W2550962588 cites W2075732583 @default.
• W2550962588 cites W2079489161 @default.
• W2550962588 cites W2086300835 @default.
• W2550962588 cites W2093441343 @default.
• W2550962588 cites W2098978914 @default.
• W2550962588 cites W2099036911 @default.
• W2550962588 cites W2102211304 @default.
• W2550962588 cites W2102327538 @default.
• W2550962588 cites W2102813617 @default.
• W2550962588 cites W2113670539 @default.
• W2550962588 cites W2114872355 @default.
• W2550962588 cites W2115450084 @default.
• W2550962588 cites W2116149846 @default.
• W2550962588 cites W2117168196 @default.
• W2550962588 cites W2119538681 @default.
• W2550962588 cites W2119679922 @default.
• W2550962588 cites W2122905152 @default.
• W2550962588 cites W2123676540 @default.
• W2550962588 cites W2126118258 @default.
• W2550962588 cites W2127540003 @default.
• W2550962588 cites W2130062777 @default.
• W2550962588 cites W2133836078 @default.
• W2550962588 cites W2134024603 @default.
• W2550962588 cites W2135466257 @default.
• W2550962588 cites W2135522980 @default.
• W2550962588 cites W2136746857 @default.
• W2550962588 cites W2137076271 @default.
• W2550962588 cites W2137434543 @default.
• W2550962588 cites W2140312446 @default.
• W2550962588 cites W2143472860 @default.
• W2550962588 cites W2145697686 @default.
• W2550962588 cites W2147958782 @default.
• W2550962588 cites W2154417593 @default.
• W2550962588 cites W2154923417 @default.
• W2550962588 cites W2154945114 @default.
• W2550962588 cites W2155221045 @default.
• W2550962588 cites W2157303903 @default.
• W2550962588 cites W2157372514 @default.
• W2550962588 cites W2158949580 @default.
• W2550962588 cites W2159400623 @default.
• W2550962588 cites W2164918307 @default.

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