Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.G137V
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FXN

NM_000144.5:p.G137V

Associated Papers

Nanobodies as tools for studying human frataxin biology.

Pignataro MF et al.

Communications Biology, 2026

The Regulation of the Disease-Causing Gene FXN.

Dong YN et al.

Cells, 2024

CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.

Gentili HG et al.

The Biochemical Journal, 2023

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.

Puglisi R

Biomedicines, 2022

Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.

Espeche LD et al.

Archives of Biochemistry and Biophysics, 2022

Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.

Campbell CJ et al.

International Journal of Molecular Sciences, 2021

A Highly Conserved Iron-Sulfur Cluster Assembly Machinery between Humans and Amoeba Dictyostelium discoideum: The Characterization of Frataxin.

Olmos J et al.

International Journal of Molecular Sciences, 2020

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Dong YN et al.

Human Molecular Genetics, 2019

Selected missense mutations impair frataxin processing in Friedreich ataxia.

Clark E et al.

Annals of Clinical and Translational Neurology, 2017

Analyzing the Effects of a G137V Mutation in the FXN Gene.

Faggianelli N et al.

Frontiers in Molecular Neuroscience, 2015

High-dose thiamine improves the symptoms of Friedreich's ataxia.

Costantini A et al.

Bmj Case Reports, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."