Article

Biochemical alterations precede neurobehavioral deficits in a novel mouse model of Friedreich ataxia

2021-04-05

Abstract excerpt

<h4>ABSTRACT</h4> Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease, caused by partial deficiency of frataxin, a mitochondrial protein. This deficiency is caused by the presence of a GAA triplet expansion in the first intron of the frataxin gene or, in some patients, by point mutations. Generating mouse models mimicking FA has been challenging, as this disease is manifested when frataxin levels ar...

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Literature Corpus work: e5f83d9a-fb0d-5ba5-8142-17a690694abe
DOI: 10.1101/2021.04.05.438486

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