Therapeutics development for triplet repeat expansion diseases

  title={Therapeutics development for triplet repeat expansion diseases},
  author={Nicholas A. Di Prospero and Kenneth H. Fischbeck},
  journal={Nature Reviews Genetics},
The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of model systems for investigating disease mechanisms and evaluating treatments. Examination of… CONTINUE READING