ArticleAnalytical chemistry2018
Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
Article in Analytical chemistry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 43 citations in OpenAlex.
- Safety and efficacy of individualised exercise and NADThe Lancet. Neurology · 2026Trial
- An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich's ataxia.Nature communications · 2022Trial
- Randomized, double-blind, placebo-controlled study of interferon-Annals of clinical and translational neurology · 2019Trial
- Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia.BMJ neurology open · 2026Article
- The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.Brain communications · 2026Review
- Anatomical and functional analysis of the corticospinal tract in an FRDA mouse model.bioRxiv : the preprint server for biology · 2024Article
- Expression and processing of mature human frataxin after gene therapy in mice.Scientific reports · 2024Article
- Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.Journal of neurology · 2024Article
- Expression and processing of mature human frataxin after gene therapy in mice.Research square · 2023Article
- Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy.Communications biology · 2023Article
- Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.Molecular therapy. Methods & clinical development · 2023Article
- Diagnosis, treatment, and research status of rare diseases related to birth defects.Intractable & rare diseases research · 2023Review
- Liquid Chromatography-Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich's Ataxia.Analytical chemistry · 2023Article
- DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.Scientific reports · 2022Article
- Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood.Frontiers in neuroscience · 2022Article
- Mass spectrometry-based chemical mapping and profiling toward molecular understanding of diseases in precision medicine.Chemical science · 2021Review
- Proteomics: A Tool to Study Platelet Function.International journal of molecular sciences · 2021Review
- Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia.Molecular & cellular proteomics : MCP · 2021Article
- Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.Scientific reports · 2020Article
- Antioxidant Therapies and Oxidative Stress in Friedreich´s Ataxia: The Right Path or Just a Diversion?Antioxidants (Basel, Switzerland) · 2020Review
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Friedreich's ataxia (FA) is an autosomal recessive disease caused by an intronic GAA triplet expansion in the FXN gene, leading to reduced expression of the mitochondrial protein frataxin. FA is estimated to affect 1 in 50 000 with a mean age of death in the fourth decade of life. There are no approved treatments for FA, although experimental approaches, which involve up-regulation or replacement of frataxin protein, are being tested. Frataxin is undetectable in serum or plasma, and whole blood cannot be used because it is present in long-lived erythrocytes. Therefore, an assay was developed for analyzing frataxin in platelets, which have a half-life of 10 days. The assay is based on stable isotope dilution immunopurification two-dimensional nano-ultra high performance liquid chromatography/parallel reaction monitoring/mass spectrometry. The lower limit of quantification was 0.078 pg frataxin/μg protein, and the assay had 100% sensitivity and specificity for discriminating between controls and FA cases. The mean levels of control and FA platelet frataxin were 9.4 ± 2.6 and 2.4 ± 0.6 pg/μg protein, respectively. The assay should make it possible to rigorously monitor the effects of therapeutic interventions on frataxin expression in this devastating disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.