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

Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia

13 Feb 2013

Abstract excerpt

Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein frataxin. There is a correlation between expansion length, the amount of residual frataxin and the severity of...

Read the complete abstract on PubMed

Topics

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

Share to Autophagy in Disease and Therapy
Share to Genetic Neurodegenerative Diseases
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23418481
DOI: 10.1371/journal.pone.0055940

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich AtaxiaPMID 23418481Read ↗

Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter.Semantic proximity Read ↗

Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxiaSemantic proximity Read ↗

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich AtaxiaSemantic proximity Read ↗

Advances in Gene and Cellular Therapy in Friedreich Ataxia.Semantic proximity Read ↗

Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxiaSemantic proximity Read ↗

Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.Semantic proximity Read ↗

Pathophysiogical and therapeutic progress in Friedreich ataxia.Semantic proximity Read ↗

Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection.Semantic proximity Read ↗

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

Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell modelSemantic proximity Read ↗

A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia.Semantic proximity Read ↗

Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.Semantic proximity Read ↗

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