Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration (Q34336948)

1 August 2017

title

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration (English)

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amyotrophic lateral sclerosis and frontotemporal dementia

1 August 2017

main subject

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amyotrophic lateral sclerosis

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dementia

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frontotemporal dementia

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9

Marla Gearing

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1 August 2017

Zihui Xu

1

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1 August 2017

Mickael Poidevin

2

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1 August 2017

Xuekun Li

3

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1 August 2017

Yujing Li

4

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1 August 2017

Liqi Shu

5

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1 August 2017

David L Nelson

6

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1 August 2017

He Li

7

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1 August 2017

Chadwick M Hales

8

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1 August 2017

Thomas S Wingo

10

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1 August 2017

Peng Jin

11

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1 August 2017

language of work or name

English

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publication date

3 April 2013

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Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

published in

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1 August 2017

volume

110

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1 August 2017

issue

19

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1 August 2017

page(s)

7778-7783

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Advances in understanding the molecular basis of frontotemporal dementia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Quantitative analysis of the detergent-insoluble brain proteome in frontotemporal lobar degeneration using SILAC internal standards

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Non-ATG-initiated translation directed by microsatellite expansions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Multiple roles for Puralpha in cellular and viral regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

RNA-mediated neuromuscular disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Axonal transport defects: a common theme in neurodegenerative diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Kinesin transports RNA: isolation and characterization of an RNA-transporting granule

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651485

Prevalence and patterns of cognitive impairment in sporadic ALS.

6 July 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1219643110

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553836

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1219643110

1 reference

1 August 2017

0 references

1 reference

1 August 2017

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