(Q36302082)

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Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

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Europe PubMed Central

PMC publication ID

13 August 2017

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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author name string

Yanjie Li

1

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3 June 2020

Urszula Polak

3

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3 June 2020

Kevin Lin

4

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3 June 2020

Jianjun Shen

5

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3 June 2020

Jennifer Farmer

6

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3 June 2020

Lauren Seyer

7

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3 June 2020

Angela D Bhalla

8

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3 June 2020

David R Lynch

10

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3 June 2020

Jill Sergesketter Butler

11

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3 June 2020

Marek Napierala

12

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3 June 2020

publication date

23 September 2015

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13 August 2017

Human Molecular Genetics

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3 June 2020

24

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3 June 2020

24

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3 June 2020

6932-6943

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26401053%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Characterization and dynamics of pericentromere-associated domains in mice

1 reference

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30 September 2017

Friedreich's ataxia--a case of aberrant transcription termination?

1 reference

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30 September 2017

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.

1 reference

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30 September 2017

Getting up to speed with transcription elongation by RNA polymerase II

1 reference

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30 September 2017

Chromosome boundary elements and regulation of heterochromatin spreading

1 reference

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30 September 2017

Epigenetic therapy for Friedreich ataxia

1 reference

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30 September 2017

Therapeutic approaches for the treatment of Friedreich's ataxia

1 reference

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30 September 2017

Genome-wide dynamics of Pol II elongation and its interplay with promoter proximal pausing, chromatin, and exons

1 reference

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30 September 2017

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.

1 reference

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30 September 2017

R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.

1 reference

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30 September 2017

Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia

1 reference

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30 September 2017

Rate of elongation by RNA polymerase II is associated with specific gene features and epigenetic modifications

1 reference

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30 September 2017

RefSeq: an update on mammalian reference sequences

1 reference

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30 September 2017

Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.

1 reference

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30 September 2017

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

1 reference

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30 September 2017

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Inhibition of DNA synthesis facilitates expansion of low-complexity repeats: is strand slippage stimulated by transient local depletion of specific dNTPs?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Fast gapped-read alignment with Bowtie 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Fast computation and applications of genome mappability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Differential expression analysis for sequence count data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

New insights into repeat instability: role of RNA•DNA hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Progressive GAA.TTC repeat expansion in human cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues

1 reference

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30 September 2017

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Spreading of silent chromatin: inaction at a distance

1 reference

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30 September 2017

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

1 reference

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30 September 2017

Esg1, expressed exclusively in preimplantation embryos, germline, and embryonic stem cells, is a putative RNA-binding protein with broad RNA targets

1 reference

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30 September 2017

Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity

1 reference

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30 September 2017

Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

30 September 2017

Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

29 June 2018

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

1 reference

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RNA polymerase backtracking in gene regulation and genome instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

22 September 2018

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4654050

22 September 2018

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1 reference

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1 reference

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22 September 2018

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

1 reference

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1 reference

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1 reference

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22 September 2018

Frataxin knockin mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV397

21 January 2018

Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/26401053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDV397

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26401053%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26401053%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26401053%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

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