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

BACKGROUND: 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. FRDA is a progressive neurodegenera...

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Detalles Bibliográficos
Autores principales: Angulo, Mariana B., Bertalovitz, Alexander, Argenziano, Mariana A., Yang, Jiajia, Patel, Aarti, Zesiewicz, Theresa, McDonald, Thomas V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834160/
https://www.ncbi.nlm.nih.gov/pubmed/36369844
http://dx.doi.org/10.1002/mgg3.2093

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834160/
https://www.ncbi.nlm.nih.gov/pubmed/36369844
http://dx.doi.org/10.1002/mgg3.2093

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