Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

@article{Jiang2019PathogenicMA,
  title={Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia},
  author={Jie’an Jiang and John M. Ravits},
  journal={Neurotherapeutics},
  year={2019},
  volume={16},
  pages={1115 - 1132}
}
In 2011, a hexanucleotide repeat expansion in the first intron of the C9orf72 gene was identified as the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The proposed disease mechanisms include loss of C9orf72 function and gain of toxicity from the bidirectionally transcribed repeat-containing RNAs. Over the last few years, substantial progress has been made to determine the contribution of loss and gain of function in disease pathogenesis. The… CONTINUE READING

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Repeat Expansion Disorders: Mechanisms and Therapeutics

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