(Q28506086)

24 January 2017

title

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

1 reference

24 January 2017

1 reference

GOA release 2020-03-11

MutS homolog 2

1 reference

Mismatch repair endonuclease PMS2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Ricardo Mouro Pinto

3

0 references

author name string

Rebecka L. Bourn

1

1 reference

24 January 2017

Irene De Biase

2

1 reference

24 January 2017

Chiranjeevi Sandi

4

1 reference

24 January 2017

Sahar Al-Mahdawi

5

1 reference

24 January 2017

Mark A. Pook

6

1 reference

24 January 2017

Sanjay I. Bidichandani

7

1 reference

24 January 2017

language of work or name

English

0 references

publication date

1 January 2012

1 reference

24 January 2017

1 reference

24 January 2017

volume

7

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24 January 2017

issue

10

1 reference

24 January 2017

page(s)

e47085

1 reference

Creative Commons Attribution 4.0 International

24 January 2017

copyright license

start time

11 October 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

19 March 2017

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HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions

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19 March 2017

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The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

19 March 2017

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19 March 2017

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Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

19 March 2017

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The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

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Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability

29 September 2017

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Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells

29 September 2017

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Transposon Tn7 preferentially inserts into GAA*TTC triplet repeats under conditions conducive to Y*R*Y triplex formation

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Repeat instability as the basis for human diseases and as a potential target for therapy

29 September 2017

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Progressive GAA.TTC repeat expansion in human cell lines

29 September 2017

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Mismatch recognition protein MutSbeta does not hijack (CAG)n hairpin repair in vitro.

29 September 2017

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MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice

29 September 2017

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Human postmeiotic segregation 2 exhibits biased repair at tetranucleotide microsatellite sequences

29 September 2017

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DNA repair in mammalian cells: DNA double-strand break repair: how to fix a broken relationship.

29 September 2017

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Human MutL-complexes monitor homologous recombination independently of mismatch repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

29 September 2017

1 reference

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Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia

29 September 2017

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Accumulation of nuclear DNA damage or neuron loss: molecular basis for a new approach to understanding selective neuronal vulnerability in neurodegenerative diseases

29 September 2017

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Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Saccharomyces cerevisiae MutLalpha is a mismatch repair endonuclease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Protein roadblocks and helix discontinuities are barriers to the initiation of mismatch repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Mechanisms in eukaryotic mismatch repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

DNA repair in neurons: so if they don't divide what's to repair?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

DNA mismatch repair system. Classical and fresh roles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

The multifaceted mismatch-repair system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Inactivation of the SR protein splicing factor ASF/SF2 results in genomic instability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Variation in efficiency of DNA mismatch repair at different sites in the yeast genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Intracellular transcription of G-rich DNAs induces formation of G-loops, novel structures containing G4 DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

CTG repeat instability and size variation timing in DNA repair-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

DNA double-strand breaks caused by replication arrest

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

DNA mismatch repair in Xenopus egg extracts: repair efficiency and DNA repair synthesis for all single base-pair mismatches

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Binding properties of replication protein A from human and yeast cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Mispair specificity of methyl-directed DNA mismatch correction in vitro

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Endonucleolytic function of MutLalpha in human mismatch repair.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

DNA repair in post-mitotic neurons: a gene-trapping strategy.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3469490

Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci

27 November 2018

1 reference

12 December 2020

Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases

1 reference

12 December 2020

The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia

1 reference

12 December 2020

Structural properties of Friedreich's ataxia d(GAA) repeats

1 reference

12 December 2020

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles

1 reference

12 December 2020

Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair

1 reference

12 December 2020

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life

1 reference

12 December 2020

The structure of intramolecular triplex DNA: atomic force microscopy study

1 reference

12 December 2020

Frataxin knockin mouse

1 reference

12 December 2020

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions

1 reference

12 December 2020

Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0047085

Identifiers

DOI

1 reference

ADS bibcode

2012PLoSO...747085B

0 references

1 reference

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