Article
Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype.
Genes - 19 Aug 2023
Bouchard Camille, Gérard Catherine, Yanyabé Solange Gni-Fiene, Majeau Nathalie, Aloui Malek, Buisson Gabrielle, Yameogo Pouiré, Couture Vanessa, Tremblay Jacques P
Abstract excerpt
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a GAA repeat in the intron 1 of the frataxin gene (FXN) leading to a lower expression of the frataxin protein. The YG8sR mice are Knock-Out (KO) for their murine frataxin gene but contain a human frataxin transgene derived from an FRDA patient with 300 GAA repeats. These mice are used as a FRDA model but even with a low frataxin...
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