Ontology highlight
ABSTRACT:
SUBMITTER: Alsina D
PROVIDER: S-EPMC6161073 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Alsina David D Purroy Rosa R Ros Joaquim J Tamarit Jordi J
Pharmaceuticals (Basel, Switzerland) 20180919 3
Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deficiency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, ...[more]