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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Qingqing Wang, Laurent Laboureur, Liwei Weng, Nicolas M. Eskenazi, Lauren A. Hauser, Clementina Mesaros, David R. Lynch, Ian A. Blair
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2022-04-01
Schriftenreihe:Frontiers in Neuroscience
Schlagworte:
assay validations
mass spectrometry
stable isotope dilution
neurodegenerative disease
liquid chromatography
homozygous Friedreich’s ataxia
Online Zugang:https://www.frontiersin.org/articles/10.3389/fnins.2022.874768/full
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge