par Miranda, C;Santos, M M;Ohshima, K;Smith, J. F.;Li, Liangtao;Bunting, Michaeline;Cossée, Mireille;Koenig, Michael;Sequeiros, Jorge;Kaplan, Jerry;Pandolfo, Massimo
Référence FEBS letters, 512, 1-3, page (291-297)
Publication Publié, 2002-02
Référence FEBS letters, 512, 1-3, page (291-297)
Publication Publié, 2002-02
Article révisé par les pairs
Résumé : | Friedreich ataxia is the consequence of frataxin deficiency, most often caused by a GAA repeat expansion in intron 1 of the corresponding gene. Frataxin is a mitochondrial protein involved in iron homeostasis. As an attempt to generate a mouse model of the disease, we introduced a (GAA)(230) repeat within the mouse frataxin gene by homologous recombination. GAA repeat knockin mice were crossed with frataxin knockout mice to obtain double heterozygous mice expressing 25-36% of wild-type frataxin levels. These mice were viable and did not develop anomalies of motor coordination, iron metabolism or response to iron loading. Repeats were meiotically and mitotically stable. |