RANTing about C9orf72

Neuron. 2013 Feb 20;77(4):597-8. doi: 10.1016/j.neuron.2013.02.009.

Abstract

A noncoding repeat expansion in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. In this issue of Neuron, Ash et al. (2013) show that despite being noncoding the repeats are translated, leading to widespread neuronal aggregates of the translated proteins.

Publication types

  • Introductory Journal Article
  • Comment

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • C9orf72 Protein
  • Cohort Studies
  • DNA-Binding Proteins / genetics
  • Frontotemporal Dementia / genetics*
  • Genotype
  • Humans
  • Neurons / cytology
  • Proteins

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • DNA-Binding Proteins
  • Proteins