Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content (Q34097811)

31 July 2017

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content (English)

1 reference

31 July 2017

Darren G Monckton

2

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author name string

Colm E Nestor

series ordinal

1

1 reference

PubMed ID

22163004

31 July 2017

language of work or name

English

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publication date

6 December 2011

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31 July 2017

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31 July 2017

6

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31 July 2017

12

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31 July 2017

e28260

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Creative Commons Attribution 4.0 International

31 July 2017

start time

6 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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A novel approach to investigate tissue-specific trinucleotide repeat instability

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R loops stimulate genetic instability of CTG.CAG repeats

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The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.

5 July 2018

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5 July 2018

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The impact of ataxin-1-like histidine insertions on polyglutamine aggregation

5 July 2018

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Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

5 July 2018

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CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

5 July 2018

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Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice

5 July 2018

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Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline

5 July 2018

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A universal mechanism ties genotype to phenotype in trinucleotide diseases

5 July 2018

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OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

5 July 2018

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Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle

5 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=3232215

Flanking sequences profoundly alter polyglutamine toxicity in yeast

5 July 2018

1 reference

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CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation

5 July 2018

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Expansion of amino acid homo-sequences in proteins: insights into the role of amino acid homo-polymers and of the protein context in aggregation

5 July 2018

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Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down

5 July 2018

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Polyglutamine is not all: the functional role of the AXH domain in the ataxin-1 protein

5 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=3232215

Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?

5 July 2018

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Diseases of unstable repeat expansion: mechanisms and common principles

5 July 2018

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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

STRIDE: a web server for secondary structure assignment from known atomic coordinates of proteins

5 July 2018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

5 July 2018

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Poly-ubiquitin Binding by the Polyglutamine Disease Protein Ataxin-3 Links Its Normal Function to Protein Surveillance Pathways

5 July 2018

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The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Polyglutamines placed into context

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Fourteen and counting: unraveling trinucleotide repeat diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Knowledge-based protein secondary structure assignment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Somatic instability of CTG repeat in myotonic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

MSH2 deficient mice are viable and susceptible to lymphoid tumours

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Trinucleotide expansion in haploid germ cells by gap repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Hidden Markov models that use predicted local structure for fold recognition: alphabets of backbone geometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Stability of the Huntington disease (CAG)n repeat in a late onset form occuring on the Island of Crete

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Late-onset and typical Huntington disease families from Crete have distinct genetic origins

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232215

Intergenerational instability and marked anticipation in SCA-17

28 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Are interruptedSCA2CAG repeat expansions responsible for parkinsonism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028260

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

21 January 2018

1 reference

12 December 2020

Heritable unstable DNA sequences

1 reference

12 December 2020

Heterogeneous mutation processes in human microsatellite DNA sequences

1 reference

12 December 2020

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

12 December 2020

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

1 reference

12 December 2020

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

1 reference

12 December 2020

Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0028260

Identifiers

DOI

1 reference

31 July 2017

0 references

1 reference

31 July 2017

1 reference

PubMed ID

22163004