Frataxin and frataxin deficiency in Friedreich's ataxia
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference30 articles.
1. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
2. Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo;Ohshima;J. Biol. Chem.,1998
3. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation;Cossée;Hum. Mol. Genet.,2000
4. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency;Patel;Am. J. Hum. Genet.,2001
5. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes;Campuzano;Hum. Mol. Genet.,1997
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