U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish (Q35237055)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735748%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish (English)

1 reference

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2 March 2020

0 references

1 reference

amyotrophic lateral sclerosis

1 reference

2

1 reference

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2 March 2020

Christopher Shaw

10

1 reference

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2 March 2020

author name string

Yong Yu

1

1 reference

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2 March 2020

Wei Xia

3

1 reference

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2 March 2020

Jaya Gangopadhyay

4

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2 March 2020

Tomohiro Yamazaki

5

1 reference

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2 March 2020

Marlene E Winkelbauer-Hurt

6

1 reference

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2 March 2020

Shanye Yin

7

1 reference

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2 March 2020

Yoan Eliasse

8

1 reference

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2 March 2020

Edward Adams

9

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2 March 2020

Robin Reed

11

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2 March 2020

language of work or name

English

0 references

publication date

3 March 2015

1 reference

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2 March 2020

published in

Nucleic Acids Research

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2 March 2020

volume

43

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2 March 2020

issue

6

1 reference

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2 March 2020

page(s)

3208-3218

1 reference

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Creative Commons Attribution-NonCommercial 4.0 International

2 March 2020

copyright license

start time

10 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.

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FUS is sequestered in nuclear aggregates in ALS patient fibroblasts

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

13 July 2018

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ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

13 July 2018

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Phosphorylation-regulated binding of RNA polymerase II to fibrous polymers of low-complexity domains

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ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation

13 July 2018

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Altered ribostasis: RNA-protein granules in degenerative disorders

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

13 July 2018

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Prion-like properties of pathological TDP-43 aggregates from diseased brains

13 July 2018

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ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

13 July 2018

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Stress granules as crucibles of ALS pathogenesis.

13 July 2018

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Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma

13 July 2018

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Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm

13 July 2018

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RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum

13 July 2018

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The changing scene of amyotrophic lateral sclerosis

13 July 2018

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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

13 July 2018

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Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.

13 July 2018

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FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

13 July 2018

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TDP-43 aggregation in neurodegeneration: are stress granules the key?

13 July 2018

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Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

13 July 2018

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RNA targets of wild-type and mutant FET family proteins

13 July 2018

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RNA-binding proteins with prion-like domains in ALS and FTLD-U.

13 July 2018

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FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

13 July 2018

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Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

13 July 2018

1 reference

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U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation

13 July 2018

1 reference

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TDP-43-mediated neuron loss in vivo requires RNA-binding activity

13 July 2018

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Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice.

13 July 2018

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Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

RNA metabolism and the pathogenesis of motor neuron diseases

13 July 2018

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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

13 July 2018

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TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

13 July 2018

1 reference

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Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

The SMN complex: an assembly machine for RNPs

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

Essential role for the SMN complex in the specificity of snRNP assembly

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

Sm protein-Sm site RNA interactions within the inner ring of the spliceosomal snRNP core structure

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

Correlation between severity and SMN protein level in spinal muscular atrophy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

The U1 small nuclear ribonucleoprotein (snRNP) 70K protein is transported independently of U1 snRNP particles via a nuclear localization signal in the RNA-binding domain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4381066

Novel missense and truncating mutations in FUS/TLS in familial ALS

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25735748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The splicing factor U1-70K interacts with the SMN complex and is required for nuclear gem integrity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25735748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular cloning and subcellular localisation of the snRNP-associated protein 69KD, a structural homologue of the proto-oncoproteins TLS and EWS with RNA and DNA-binding properties

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25735748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKV157

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735748%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735748%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735748%20AND%20SRC:MED&resulttype=core&format=json