ArticleHuman mutation2019
Characterization of human frataxin missense variants in cancer tissues.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 21 citations in OpenAlex.
- Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges.Human genetics · 2025Article
- Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.Human genetics · 2025Article
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.Genome biology · 2024Article
- The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants.Human genomics · 2023Article
- Probing protein stability: towards a computational atomistic, reliable, affordable, and improvable model.Frontiers in molecular biosciences · 2023Article
- Modelling Protein Plasticity: The Example of Frataxin and Its Variants.Molecules (Basel, Switzerland) · 2022Article
- Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.Biomedicines · 2022Review
- Turning Failures into Applications: The Problem of Protein ΔΔG Prediction.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Metal Ion Binding in Wild-Type and Mutated Frataxin: A Stability Study.Frontiers in molecular biosciences · 2022Article
- A Deep-Learning Sequence-Based Method to Predict Protein Stability Changes Upon Genetic Variations.Genes · 2021Article
- Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.International journal of molecular sciences · 2021Review
- Analysis and Interpretation of the Impact of Missense Variants in Cancer.International journal of molecular sciences · 2021Review
- Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine.Computational and structural biotechnology journal · 2020Review
- Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation.Human mutation · 2019Article
- Predicting changes in protein stability caused by mutation using sequence-and structure-based methods in a CAGI5 blind challenge.Human mutation · 2019Article
- Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.Human mutation · 2019Article
- Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challenges.Human mutation · 2019Article
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
Abstract
Human frataxin is an iron-binding protein involved in the mitochondrial iron-sulfur (Fe-S) clusters assembly, a process fundamental for the functional activity of mitochondrial proteins. Decreased level of frataxin expression is associated with the neurodegenerative disease Friedreich ataxia. Defective function of frataxin may cause defects in mitochondria, leading to increased tumorigenesis. Tumor-initiating cells show higher iron uptake, a decrease in iron storage and a reduced Fe-S clusters synthesis and utilization. In this study, we selected, from COSMIC database, the somatic human frataxin missense variants found in cancer tissues p.D104G, p.A107V, p.F109L, p.Y123S, p.S161I, p.W173C, p.S181F, and p.S202F to analyze the effect of the single amino acid substitutions on frataxin structure, function, and stability. The spectral properties, the thermodynamic and the kinetic stability, as well as the molecular dynamics of the frataxin missense variants found in cancer tissues point to local changes confined to the environment of the mutated residues. The global fold of the variants is not altered by the amino acid substitutions; however, some of the variants show a decreased stability and a decreased functional activity in comparison with that of the wild-type protein.
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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.