Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.Q148R
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FXN

NM_000144.5:p.Q148R

Associated Papers

An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.

Da Conceição LMA et al.

International Journal of Molecular Sciences, 2024

38891993 (PubMed )
Supplement: ijms-25-05796-s001.zip › Table_S1.pdf

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

Gentili HG et al.

The Biochemical Journal, 2023

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

Espeche LD et al.

Archives of Biochemistry and Biophysics, 2022

Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.

Monfort B et al.

Frontiers in Neuroscience, 2022

Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.

Bridwell-Rabb J et al.

Biochemistry, 2014

The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.

Faraj SE et al.

The Febs Journal, 2014

Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.

Gomes CM et al.

Oxidative Medicine and Cellular Longevity, 2013

Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.

Martelli A et al.

Disease Models & Mechanisms, 2012

Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.

Bridwell-Rabb J et al.

Biochemistry, 2011

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 2010

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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."