Articles with "frataxin deficiency" as a keyword



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Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes

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Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2093

Abstract: Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded protein frataxin.… read more here.

Keywords: neurons cardiomyocytes; friedreich ataxia; gene; frataxin deficiency ... See more keywords