Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency

Am J Hum Genet. 2001 Jul;69(1):15-24. doi: 10.1086/321283. Epub 2001 Jun 4.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Frataxin
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / metabolism
  • Friedreich Ataxia / pathology
  • Friedreich Ataxia / therapy
  • Germ-Line Mutation / genetics
  • Homeostasis
  • Humans
  • Iron / metabolism
  • Iron-Binding Proteins*
  • Mice
  • Mitochondria / metabolism
  • Models, Genetic
  • Nucleic Acid Conformation
  • Oxidative Stress
  • Phosphotransferases (Alcohol Group Acceptor) / chemistry
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism
  • Transcription, Genetic / genetics
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • Iron-Binding Proteins
  • Iron
  • Phosphotransferases (Alcohol Group Acceptor)