Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
Patel
P I
PI
Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. pragna@bcm.tmc.edu
Isaya
G
G
D000818:Animals; D005621:Friedreich Ataxia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D018095:Germ-Line Mutation / Q000235:genetics; D006706:Homeostasis; D006801:Humans; D007501:Iron / Q000378:metabolism; D033862:Iron-Binding Proteins; D051379:Mice; D008928:Mitochondria / Q000378:metabolism; D008957:Models, Genetic; D009690:Nucleic Acid Conformation; D018384:Oxidative Stress; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D014158:Transcription, Genetic / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D000096923:Frataxin
D007501:Iron; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin