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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Detalhes bibliográficos

Principais autores:	Qingqing Wang, Laurent Laboureur, Liwei Weng, Nicolas M. Eskenazi, Lauren A. Hauser, Clementina Mesaros, David R. Lynch, Ian A. Blair
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-04-01
coleção:	Frontiers in Neuroscience
Assuntos:	assay validations mass spectrometry stable isotope dilution neurodegenerative disease liquid chromatography homozygous Friedreich’s ataxia
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fnins.2022.874768/full
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