(Q30536540)

English

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23382207%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43 (English)

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23 February 2020

amyotrophic lateral sclerosis

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Christopher Shaw

16

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23 February 2020

Don W. Cleveland

18

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23 February 2020

Kevin M Clutario

12

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Kevin M Clutario

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23 February 2020

Lino Tessarollo

14

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Lino Tessarollo

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23 February 2020

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Eveline S Arnold

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23 February 2020

Shuo-Chien Ling

2

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23 February 2020

Stephanie C Huelga

3

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23 February 2020

Magdalini Polymenidou

5

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23 February 2020

Dara Ditsworth

6

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23 February 2020

Holly B Kordasiewicz

7

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23 February 2020

Melissa McAlonis-Downes

8

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23 February 2020

Oleksandr Platoshyn

9

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23 February 2020

Philippe A Parone

10

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23 February 2020

Sandrine Da Cruz

11

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23 February 2020

Debbie Swing

13

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23 February 2020

Martin Marsala

15

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23 February 2020

Gene W Yeo

17

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23 February 2020

Clotilde Lagier-Tourenne

4

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23 February 2020

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4 February 2013

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23 February 2020

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

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23 February 2020

110

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23 February 2020

8

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23 February 2020

E736-45

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23 February 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Neuronal sensitivity to TDP-43 overexpression is dependent on timing of induction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

The self-interaction of native TDP-43 C terminus inhibits its degradation and contributes to early proteinopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Caenorhabditis elegans RNA-processing protein TDP-1 regulates protein homeostasis and life span

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Mutant TDP-43 in motor neurons promotes the onset and progression of ALS in rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

TDP-43 regulates its mRNA levels through a negative feedback loop

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Neurotoxic effects of TDP-43 overexpression in C. elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Prion-like disorders: blurring the divide between transmissibility and infectivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Phosphorylated and cleaved TDP-43 in ALS, FTLD and other neurodegenerative disorders and in cellular models of TDP-43 proteinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

TDP-43 is a developmentally regulated protein essential for early embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Expression of TDP-43 C-terminal Fragments in Vitro Recapitulates Pathological Features of TDP-43 Proteinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

ALS and FTLD: two faces of TDP-43 proteinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

TDP-43 A315T mutation in familial motor neuron disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Activation of poly(ADP)-ribose polymerase (PARP-1) induces release of the pro-inflammatory mediator HMGB1 from the nucleus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Unusual intron conservation near tissue-regulated exons found by splicing microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Structural diversity and functional implications of the eukaryotic TDP gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

20 June 2018

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

Progressive motor weakness in transgenic mice expressing human TDP-43.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

A vector for expressing foreign genes in the brains and hearts of transgenic mice

2 references

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/23382207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GluR2 deficiency accelerates motor neuron degeneration in a mouse model of amyotrophic lateral sclerosis.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

Neuroprotection by metabotropic glutamate receptor agonists on kainate-induced degeneration of motor neurons in spinal cord slices from adult rat

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222809110

21 January 2018

TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581922

26 November 2018

Mouse model of multiple system atrophy alpha-synuclein expression in oligodendrocytes causes glial and neuronal degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/23382207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/23382207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.1222809110

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23382207%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

2013PNAS..110E.736A

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23382207%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23382207%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

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