C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

@inproceedings{Mizielinska2013C9orf72FL,
  title={C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci},
  author={Sarah M Mizielinska and Tammaryn Lashley and Frances E. Norona and Emma L. Clayton and Charlotte E. Ridler and Pietro Fratta and Adrian M. Isaacs},
  booktitle={Acta Neuropathologica},
  year={2013}
}
An expanded GGGGCC repeat in a non-coding region of the C9orf72 gene is a common cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis. Non-coding repeat expansions may cause disease by reducing the expression level of the gene they reside in, by producing toxic aggregates of repeat RNA termed RNA foci, or by producing toxic proteins generated by repeat-associated non-ATG translation. We present the first definitive report of C9orf72 repeat sense and antisense RNA… CONTINUE READING
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