Liquid Chromatography–Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich’s Ataxia

[Image: see text] Friedreich’s ataxia (FRDA) is caused primarily by expanded GAA repeats in intron 1 of both alleles of the FXN gene, which causes transcriptional silencing and reduced expression of frataxin mRNA and protein. FRDA is characterized by slowly progressive ataxia and cardiomyopathy. Sym...

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Detalles Bibliográficos
Autores principales: Rojsajjakul, Teerapat, Wu, Linfeng, Grady, Connor B., Hwang, Wei-Ting, Mesaros, Clementina, Lynch, David R., Blair, Ian A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Chemical Society 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979142/
https://www.ncbi.nlm.nih.gov/pubmed/36800320
http://dx.doi.org/10.1021/acs.analchem.3c00091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979142/
https://www.ncbi.nlm.nih.gov/pubmed/36800320
http://dx.doi.org/10.1021/acs.analchem.3c00091

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