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Article

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.

PloS one - 1 Jan 2012

Bourn Rebecka L, De Biase Irene, Pinto Ricardo Mouro, Sandi Chiranjeevi, Al-Mahdawi Sahar, Pook Mark A, Bidichandani Sanjay I

Abstract excerpt

Expanded trinucleotide repeat sequences are the cause of several inherited neurodegenerative diseases. Disease pathogenesis is correlated with several features of somatic instability of these sequences, including further large expansions in postmitotic tissues. The presence of somatic expansions in postmitotic tissues is consistent with DNA repair being a major determinant of somatic instability. Indeed, proteins...

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Source

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Identifiers

PMID: 23071719
DOI: 10.1371/journal.pone.0047085
PMCID: PMC3469490

Genes

GAA
FXN

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→

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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.PMID 23071719Read ↗

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The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.Semantic proximity Read ↗

GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform oneSemantic proximity Read ↗

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