MutLα heterodimers modify the molecular phenotype of Friedreich ataxia (Q33817381)

29 July 2017

title

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia (English)

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29 July 2017

1 reference

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Vahid Ezzatizadeh

1

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29 July 2017

Chiranjeevi Sandi

2

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29 July 2017

Madhavi Sandi

3

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29 July 2017

Sara Anjomani-Virmouni

4

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29 July 2017

Sahar Al-Mahdawi

5

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29 July 2017

Mark A Pook

6

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29 July 2017

language of work or name

English

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publication date

27 June 2014

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29 July 2017

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29 July 2017

volume

9

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29 July 2017

issue

6

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29 July 2017

page(s)

e100523

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Creative Commons Attribution 4.0 International

29 July 2017

copyright license

start time

27 June 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus

4 July 2018

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

4 July 2018

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Nucleotide excision repair, mismatch repair, and R-loops modulate convergent transcription-induced cell death and repeat instability

4 July 2018

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Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells

4 July 2018

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The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination

4 July 2018

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Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.

4 July 2018

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

4 July 2018

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Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells

4 July 2018

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Genome-wide analysis of heteroduplex DNA in mismatch repair-deficient yeast cells reveals novel properties of meiotic recombination pathways

4 July 2018

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4 July 2018

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Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

4 July 2018

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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics

4 July 2018

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

4 July 2018

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Involvement of nucleotide excision and mismatch repair mechanisms in double strand break repair

4 July 2018

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Diagnosis and treatment of Friedreich ataxia: a European perspective

4 July 2018

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The pathogenesis of Friedreich ataxia and the structure and function of frataxin

4 July 2018

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The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments

4 July 2018

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DNA mismatch repair: molecular mechanism, cancer, and ageing

4 July 2018

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DNA triplexes and Friedreich ataxia

4 July 2018

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Mechanisms and functions of DNA mismatch repair

4 July 2018

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

4 July 2018

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

4 July 2018

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Involvement of mismatch repair in transcription-coupled nucleotide excision repair

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

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

4 July 2018

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The relative roles of three DNA repair pathways in preventing Caenorhabditis elegans mutation accumulation

4 July 2018

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Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

4 July 2018

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DNA mismatch repair system. Classical and fresh roles

4 July 2018

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Overexpression of the DNA mismatch repair factor, PMS2, confers hypermutability and DNA damage tolerance

4 July 2018

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Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain

4 July 2018

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Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

4 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

The molecular basis of Friedreich ataxia.

4 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

4 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Steady-state regulation of the human DNA mismatch repair system.

4 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

The effect of parental gender on the GAA dynamic mutation in the FRDA gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

NCM460, a normal human colon mucosal epithelial cell line

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Meiotic pachytene arrest in MLH1-deficient mice

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Transcription-coupled repair deficiency and mutations in human mismatch repair genes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

Induction of the Escherichia coli lactose operon selectively increases repair of its transcribed DNA strand

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074104

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

4 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100523

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100523

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100523

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100523

RTEL1 inhibits trinucleotide repeat expansions and fragility.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100523

DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100523

Defective expression of the DNA mismatch repair protein, MLH1, alters G2-M cell cycle checkpoint arrest following ionizing radiation

21 January 2018

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12 December 2020

Sticky DNA, a long GAA.GAA.TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene

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12 December 2020

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

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12 December 2020

Defects in transcription coupled repair interfere with expression of p90(MDM2) in response to ultraviolet light

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12 December 2020

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0100523

Identifiers

DOI

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29 July 2017

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29 July 2017

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