Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort

Background Friedreich ataxia is a progressive multisystem disorder caused by deficiency of the protein frataxin; a small mitochondrial protein involved in iron sulfur cluster synthesis. Two types of frataxin exist: FXN-M, found in most cells, and FXN-E, found almost exclusively in red blood cells. T...

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Veröffentlicht in:	Journal of neurology Jg. 271; H. 4; S. 1844 - 1849
Hauptverfasser:	Lynch, David R., Rojsajjakul, Teerapat, Subramony, S. H., Perlman, Susan L., Keita, Medina, Mesaros, Clementina, Blair, Ian A.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2024 Springer Nature B.V
Schlagworte:	Ataxia Blood levels Clinical trials Epigenetics Erythrocytes Frataxin Friedreich Ataxia - genetics Friedreich's ataxia Gene therapy Hemoglobin Humans Iron-Binding Proteins - genetics Iron-Binding Proteins - metabolism Mass Spectrometry Mass spectroscopy Medicine Medicine & Public Health Mitochondrial Proteins - genetics Neurology Neuroradiology Neurosciences Original Communication Protein deficiency Proteins Regression analysis Scientific imaging Mitochondrial protein GAA repeat length Friedreich Ataxia Rating scale Disability status Frataxin blood levels
ISSN:	0340-5354, 1432-1459, 1432-1459
Online-Zugang:	Volltext
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