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Intranuclear (G4C2)n RNA foci, transcribed from C9ORF72 hexanucleotide expansion mutation, form paraspeckle-like structures
Published on Jul 21, 2017981 Views
Expansion of GGGGCC hexanucleotide repeat in the C9ORF72 gene is the most common pathogenic mutation in the families with autosomal dominant frontotemporal dementia (FTD), amyotrophic lateral scle
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Intranuclear (G4C2)n repeat RNA foci, transcribed from C9orf72 hexanucleotide expansion mutation form paraspeckle-like structures00:00
C9orf72 mutation in ALS - 100:26
C9orf72 mutation in ALS - 201:39
SFPQ, NPM1, EF1α2, hnRNP-H and Prx-III bind to (G4C2)48 RNA in vitro01:44
SFPQ co-localizes with G4C2 RNA foci02:51
Paraspeckles03:25
NONO and PSPC1 also co-localize with G4C2 RNA foci04:25
SFPQ and NONO co-localize with RNA foci in C9orf72 positive cerebellum05:00
Do G4C2 RNA nuclear foci associate with NEAT1 as well?05:28
Increase in SFPQ-stained subnuclear bodies in G4C2 cells06:12
SFPQ colocalizes with G4C2 nuclear foci in NEAT1 knockdown HEK293T cells06:55
G4C2 RNA foci co-localize with hLincRNA-p2107:39
Conclusions08:34
Acknowledgements09:03