Perspectives on current models of Friedreich’s ataxia

Friedreich’s ataxia (FRDA, OMIM#229300) is the most common hereditary ataxia, resulting from the reduction of frataxin protein levels due to the expansion of GAA repeats in the first intron of the FXN gene. Why the triplet repeat expansion causes a decrease in Frataxin protein levels is not entirely...

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Detalles Bibliográficos
Autores principales: Kelekçi, Simge, Yıldız, Abdullah Burak, Sevinç, Kenan, Çimen, Deniz Uğurlu, Önder, Tamer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403045/
https://www.ncbi.nlm.nih.gov/pubmed/36036008
http://dx.doi.org/10.3389/fcell.2022.958398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403045/
https://www.ncbi.nlm.nih.gov/pubmed/36036008
http://dx.doi.org/10.3389/fcell.2022.958398

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