Article
Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells.
Human molecular genetics - 1 May 2015
Palandri Amandine, L'hôte David, Cohen-Tannoudji Joëlle, Tricoire Hervé, Monnier Véronique
Abstract excerpt
Friedreich ataxia (FA), the most common inherited autosomal-recessive ataxia in Caucasians, is characterized by progressive degeneration of the central and peripheral nervous system, hypertrophic cardiomyopathy and increased incidence of diabetes. FA is caused by a GAA repeat expansion in the first intron of the gene encoding frataxin, an evolutionarily conserved mitochondrial protein, which results in decreased...
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