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Article

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

PloS one - 1 Jan 2014

Ezzatizadeh Vahid, Sandi Chiranjeevi, Sandi Madhavi, Anjomani-Virmouni Sara, Al-Mahdawi Sahar, Pook Mark A

Abstract excerpt

BACKGROUND: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models have revealed a role for the mismatch repair (MMR) MutS-heterodimer complexes and the PMS2 component of the MutLα complex in the dynamics of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24971578
DOI: 10.1371/journal.pone.0100523
PMCID: PMC4074104

Genes

GAA
FXN
PMS2
MLH1
MSH2
MSH3
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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