ArticleFrontiers in molecular neuroscience2015
Analyzing the Effects of a G137V Mutation in the FXN Gene.
Article in Frontiers in molecular neuroscience, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Nanobodies as tools for studying human frataxin biology.Communications biology · 2026Article
- Frataxin: from the sequence to the biological role.Biophysical reviews · 2025Review
- Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.Biomedicines · 2022Review
- Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.International journal of molecular sciences · 2021Review
- A Highly Conserved Iron-Sulfur Cluster Assembly Machinery between Humans and AmoebaInternational journal of molecular sciences · 2020Article
- Global Implications of Local Unfolding Phenomena, Probed by Cysteine Reactivity in Human Frataxin.Scientific reports · 2019Article
- Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.Scientific reports · 2016Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Reduced levels of frataxin, an essential mitochondrial protein involved in the regulation of iron-sulfur cluster biogenesis, are responsible for the recessive neurodegenerative Friedreich Ataxia (FRDA). Expansion of a GAA triplet in the first intron of the FRDA is essential for disease development which causes partial silencing of frataxin. In the vast majority of cases, patients are homozygotes for the expansion, but a small number of FRDA patients are heterozygotes for expansion and point mutations in the frataxin coding frame. In this study, we analyze the effects of a point mutation G137V. The patient P94-2, with a history of alcohol and drug abuse, showed a FRDA onset at the border between the classic and late onset phenotype. We applied a combination of biophysical and biochemical methods to characterize its effects on the structure, folding and activity of frataxin. Our study reveals no impairment of the structure or activity of the protein but a reduced folding stability. We suggest that the mutation causes misfolding of the native chain with consequent reduction of the protein concentration in the patient and discuss the possible mechanism of disease.
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