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Article

The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion.

PLoS genetics - 1 Jul 2016

Stevanoni Martina, Palumbo Elisa, Russo Antonella

Abstract excerpt

It is well known that DNA replication affects the stability of several trinucleotide repeats, but whether replication profiles of human loci carrying an expanded repeat differ from those of normal alleles is poorly understood in the endogenous context. We investigated this issue using cell lines from Friedreich's ataxia patients, homozygous for a GAA-repeat expansion in intron 1 of the Frataxin gene. By...

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Identifiers

PMID: 27447727
DOI: 10.1371/journal.pgen.1006201
PMCID: PMC4957762

Genes

GAA

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.

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The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion.PMID 27447727Read ↗

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Large-scale expansions of Friedreich’s ataxia GAA•TTC repeats in human cells are prevented by LNA-DNA oligonucleotides and PNA oligomersSemantic proximity Read ↗

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Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very RareSemantic proximity Read ↗

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