Article

Large-scale expansions and replication stalling of Friedreich’s ataxia GAA repeats in an experimental mammalian system

2022-07-05

Abstract excerpt

1 Human disease Friedreich’s ataxia (FRDA) is caused by large-scale expansions of (GAA)n repeats in the first intron of the FXN gene. While repeat expansions during intergenerational transmissions are causative for the disease development, somatic expansions additionally contribute to the disease progression. We and others have previously shown that (GAA)n repeats transiently pause the replication fork progressio...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ab32526d-9437-5a07-bade-5ee4afeb9b4b
DOI: 10.1101/2022.07.04.498737

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Large-scale expansions and replication stalling of Friedreich’s ataxia GAA repeats in an experimental mammalian systemDOI 10.1101/2022.07.04.498737Read

Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability.Semantic proximity Read

Replication-independent instability of Friedreich's ataxia GAA repeats during chronological aging.Semantic proximity Read

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

DNA Nicks Drive Massive Expansions of (GAA) <sub>n</sub> RepeatsSemantic proximity Read

FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansionsSemantic proximity Read

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.Semantic proximity Read

Mechanisms of genetic instability caused by (CGG)n repeats in an experimental mammalian system.Semantic proximity Read

Gene silencing in fragile X syndrome explained: researchers pinpoint how excessive nucleotide repeats shut down protein production.Semantic proximity Read

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeatsSemantic proximity Read

Replication and expansion of trinucleotide repeats in yeast.Semantic proximity Read

Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair.Semantic proximity Read

A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich's Ataxia.Semantic proximity Read