Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

@inproceedings{Belzil2013ReducedCG,
  title={Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood},
  author={Veronique Belzil and Peter O. Bauer and Mercedes Prudencio and Tania F. Gendron and Caroline T. Stetler and Irene K. Yan and Luc Pregent and Lillian M. Daughrity and Matthew C. Baker and Rosa Rademakers and Kevin B. Boylan and Tushar Patel and Dennis W. Dickson and Leonard Petrucelli},
  booktitle={Acta Neuropathologica},
  year={2013}
}
Individuals carrying (GGGGCC) expanded repeats in the C9orf72 gene represent a significant portion of patients suffering from amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Elucidating how these expanded repeats cause “c9FTD/ALS” has since become an important goal of the field. Toward this end, we sought to investigate whether epigenetic changes are responsible for the decrease in C9orf72 expression levels observed in c9FTD/ALS patients. We obtained brain tissue from ten… CONTINUE READING
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A et al (2013) loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

  • S Ciura, S lattante, I le Ber, M latouche, H Tostivint, Brice
  • Ann Neurol. doi:10.1002/ana.23946
  • 2013
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