A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects (Q37499894)

20 August 2017

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects (English)

1 reference

alternative mRNA splicing, via spliceosome

20 August 2017

1 reference

inferred from title

author

Abraham Acevedo-Arozena

object named as

Abraham Acevedo-Arozena

10

0 references

Pietro Fratta

object named as

Pietro Fratta

3

0 references

Elizabeth M. C. Fisher

11

object named as

Elizabeth M C Fisher

1 reference

20 August 2017

Thomas Ricketts

1

1 reference

20 August 2017

Philip McGoldrick

2

1 reference

20 August 2017

Hugo M de Oliveira

4

1 reference

20 August 2017

Rosie Kent

5

1 reference

20 August 2017

Vinaya Phatak

6

1 reference

20 August 2017

Sebastian Brandner

7

1 reference

20 August 2017

Gonzalo Blanco

8

1 reference

20 August 2017

Linda Greensmith

9

1 reference

20 August 2017

language of work or name

English

0 references

publication date

21 January 2014

1 reference

20 August 2017

1 reference

20 August 2017

9

1 reference

20 August 2017

1

1 reference

20 August 2017

e85962

1 reference

Creative Commons Attribution 4.0 International

20 August 2017

start time

21 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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23 August 2017

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TDP-43 identified from a genome wide RNAi screen for SOD1 regulators

23 August 2017

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Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosis

23 August 2017

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

23 August 2017

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

23 August 2017

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Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

23 August 2017

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

23 August 2017

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

23 August 2017

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

23 August 2017

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A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis

23 August 2017

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

23 August 2017

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Absence of disturbed axonal transport in spinal and bulbar muscular atrophy

23 August 2017

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

23 August 2017

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

23 August 2017

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Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

23 August 2017

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

23 August 2017

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

23 August 2017

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

23 August 2017

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ENU mutagenesis, a way forward to understand gene function

23 August 2017

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Late stage treatment with arimoclomol delays disease progression and prevents protein aggregation in the SOD1 mouse model of ALS

23 August 2017

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

23 August 2017

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

23 August 2017

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

23 August 2017

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

23 August 2017

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A gene-driven ENU-based approach to generating an allelic series in any gene

23 August 2017

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Large-scale N-ethyl-N-nitrosourea mutagenesis of mice--from phenotypes to genes

23 August 2017

1 reference

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Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

23 August 2017

1 reference

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Generation of leptin-deficient Lepmkyo/Lepmkyo rats and identification of leptin-responsive genes in the liver

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

The changing scene of amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43 associates with stalled ribosomes and contributes to cell survival during cellular stress

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

The genetics and neuropathology of amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43: gumming up neurons through protein-protein and protein-RNA interactions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43 knockdown impairs neurite outgrowth dependent on its target histone deacetylase 6.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43 functions and pathogenic mechanisms implicated in TDP-43 proteinopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43: new aspects of autoregulation mechanisms in RNA binding proteins and their connection with human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43 autoregulation: implications for disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Regulation of gene expression by TDP-43 and FUS/TLS in frontotemporal lobar degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

ALS/FTLD-linked TDP-43 regulates neurite morphology and cell survival in differentiated neurons

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Rodent models of amyotrophic lateral sclerosis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Loss of TDP-43 causes age-dependent progressive motor neuron degeneration

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Endogenous TDP-43 localized to stress granules can subsequently form protein aggregates

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

No effect on SOD1 splicing by TARDP or FUS mutations.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS).

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Neuroprotective effects of synaptic modulation in Huntington's disease R6/2 mice.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

TDP-43 is deposited in the Guam parkinsonism-dementia complex brains.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Sensitivity of butyrylcholinesterase knockout mice to (--)-huperzine A and donepezil suggests humans with butyrylcholinesterase deficiency may not tolerate these Alzheimer's disease drugs and indicates butyrylcholinesterase function in neurotransmis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Behavioural and cognitive effects of oligofructose-enriched inulin in rats.

2 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

The effect of peripheral nerve injury on disease progression in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Comparison of deramciclane to benzodiazepine agonists in behavioural activity of mice and in alcohol drinking of alcohol-preferring rats

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897576

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0085962

Abnormal regenerative responses and impaired axonal outgrowth after nerve crush in TDP-43 transgenic mouse models of amyotrophic lateral sclerosis

21 January 2018

1 reference

12 December 2020

The localization of the motoneurons supplying the hindlimb muscles of the mouse

1 reference

12 December 2020

Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: implications for TDP-43 in the physiological response to neuronal injury

1 reference

12 December 2020

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

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12 December 2020

Comprehensive observational assessment: Ia. A systematic, quantitative procedure for assessing the behavioral and physiologic state of the mouse

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12 December 2020

Kyoto rhino rats derived by ENU mutagenesis undergo congenital hair loss and exhibit focal glomerulosclerosis

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0085962

Identifiers

DOI

1 reference

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

24465814

1 reference