C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD. (Q34167443)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24806409%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24806409%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

17 March 2020

main subject

pathology

0 references

1 reference

1 reference

2

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17 March 2020

author name string

Elaine Y Liu

1

1 reference

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17 March 2020

Kathryn Wu

3

1 reference

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17 March 2020

Donald Neal

4

1 reference

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17 March 2020

Eunran Suh

5

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17 March 2020

Anna G McNally

6

1 reference

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17 March 2020

David J Irwin

7

1 reference

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17 March 2020

Vivianna M Van Deerlin

8

1 reference

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17 March 2020

Edward B Lee

9

1 reference

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17 March 2020

publication date

8 May 2014

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17 March 2020

published in

Acta Neuropathologica

1 reference

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17 March 2020

volume

128

1 reference

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17 March 2020

page(s)

525-541

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17 March 2020

issue

4

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00401-014-1286-y

17 March 2020

exact match

0 references

cites work

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

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Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome

5 July 2018

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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

5 July 2018

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Fragile X syndrome due to a missense mutation

5 July 2018

1 reference

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Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.

5 July 2018

1 reference

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The neuropathology associated with repeat expansions in the C9ORF72 gene

5 July 2018

1 reference

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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

5 July 2018

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

5 July 2018

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

5 July 2018

1 reference

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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

5 July 2018

1 reference

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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

5 July 2018

1 reference

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C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

5 July 2018

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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

5 July 2018

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A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank

5 July 2018

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Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

5 July 2018

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Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

5 July 2018

1 reference

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Repeat-associated non-ATG (RAN) translation in neurological disease

5 July 2018

1 reference

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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 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=4161616

Stress granules as crucibles of ALS pathogenesis.

5 July 2018

1 reference

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Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

5 July 2018

1 reference

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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

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

5 July 2018

1 reference

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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

ENCODE data in the UCSC Genome Browser: year 5 update

5 July 2018

1 reference

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Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide 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=4161616

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

5 July 2018

1 reference

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Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

A nonsense mutation in FMR1 causing fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Instability and chromatin structure of expanded trinucleotide repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Developmental programming of CpG island methylation profiles in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Repeat instability: mechanisms of dynamic mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

A decade of molecular studies of fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with 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=4161616

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Genotype-phenotype relationships in fragile X syndrome: a family study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Contribution of the FMR1 gene mutation to human intellectual dysfunction.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

DNA methylation represses FMR-1 transcription in fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

5 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1286-Y

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1286-Y

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1286-Y

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1286-Y

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/10.1007%2FS00401-014-1286-Y

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1286-Y

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161616

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

28 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1286-Y

Molecular-clinical correlations in males with an expanded FMR1 mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24806409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00401-014-1286-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24806409%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24806409%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24806409%20AND%20SRC:MED&resulttype=core&format=json