Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood

Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-length frataxin has a mitochondrial targeting...

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Detalles Bibliográficos
Autores principales: Wang, Qingqing, Laboureur, Laurent, Weng, Liwei, Eskenazi, Nicolas M., Hauser, Lauren A., Mesaros, Clementina, Lynch, David R., Blair, Ian A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9098139/
https://www.ncbi.nlm.nih.gov/pubmed/35573317
http://dx.doi.org/10.3389/fnins.2022.874768

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9098139/
https://www.ncbi.nlm.nih.gov/pubmed/35573317
http://dx.doi.org/10.3389/fnins.2022.874768

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