Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations

Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (FXN) gene. The most prevalent mutation is a GAA expansion in the first intron of the gene causing decreased frataxin expression. Some patients present the GAA expansion in one allele and a missense...

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Detalles Bibliográficos
Autores principales: Medina-Carbonero, Marta, Sanz-Alcázar, Arabela, Britti, Elena, Delaspre, Fabien, Cabiscol, Elisa, Ros, Joaquim, Tamarit, Jordi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763788/
https://www.ncbi.nlm.nih.gov/pubmed/35038030
http://dx.doi.org/10.1007/s00018-021-04100-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763788/
https://www.ncbi.nlm.nih.gov/pubmed/35038030
http://dx.doi.org/10.1007/s00018-021-04100-5

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