Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

International journal of molecular sciences - 26 May 2024

Da Conceição Loiane Mendonça Abrantes, Cabral Lucio Mendes, Pereira Gabriel Rodrigues Coutinho, De Mesquita Joelma Freire

Abstract excerpt

Friedreich's Ataxia (FRDA) stands out as the most prevalent form of hereditary ataxias, marked by progressive movement ataxia, loss of vibratory sensitivity, and skeletal deformities, severely affecting daily functioning. To date, the only medication available for treating FRDA is Omaveloxolone (Skyclarys®), recently approved by the FDA. Missense mutations within the human frataxin (FXN) gene, responsible for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computer Simulation
Share to Frataxin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Friedreich Ataxia

Share to Genetic Variation

Share to Iron-Binding Proteins

Share to Molecular Dynamics Simulation

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 38891993
DOI: 10.3390/ijms25115796
PMCID: PMC11172458

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.PMID 38891993Read ↗

From Genetic Mutation to Therapy in Friedreich Ataxia: Molecular Mechanisms, Therapeutic Advances, and Translational ChallengesSemantic proximity Read ↗

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.Semantic proximity Read ↗

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative StressSemantic proximity Read ↗

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.Semantic proximity Read ↗

Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia.Semantic proximity Read ↗

Friedreich Ataxia: current status and future prospectsSemantic proximity Read ↗

Friedreich's ataxia: new insightsSemantic proximity Read ↗

Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.Semantic proximity Read ↗

Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding.Semantic proximity Read ↗

Frataxin deficiency and the pathology of Friedreich’s Ataxia across tissuesSemantic proximity Read ↗

Thermodynamic Stabilization of Human FrataxinSemantic proximity Read ↗

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.