(Q42003982)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

26 February 2020

main subject

pathology

0 references

1 reference

2

1 reference

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26 February 2020

Bradley N. Smith

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Olimpia E Curran

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Caroline Vance

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Christopher Shaw

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Andrew King

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Matthew Nolan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Safa Al-Sarraj

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

publication date

9 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

Acta Neuropathologica Communications

26 February 2020

published in

1 reference

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26 February 2020

volume

3

1 reference

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26 February 2020

page(s)

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

26 February 2020

copyright license

start time

9 October 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.

1 reference

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Cytoplasmic sequestration of FUS/TLS associated with ALS alters histone marks through loss of nuclear protein arginine methyltransferase 1.

5 June 2018

1 reference

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Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Mechanisms of toxicity in C9FTLD/ALS.

5 June 2018

1 reference

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Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Protein arginine methyltransferase 1 and 8 interact with FUS to modify its sub-cellular distribution and toxicity in vitro and in vivo

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Rodent models of TDP-43: recent advances

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Transportin1: a marker of FTLD-FUS

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS i

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

A novel double mutation in FUS gene causing sporadic ALS.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4600255

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

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS40478-015-0235-X

Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP

21 January 2018

1 reference

12 December 2020

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population

1 reference

12 December 2020

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

1 reference

12 December 2020

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state

1 reference

12 December 2020

10.1186/S40478-015-0235-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

26 February 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s40478-015-0235-x

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

26452761

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26452761%20AND%20SRC:MED&resulttype=core&format=json