ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects (Q37609639)

21 August 2017

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

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amyotrophic lateral sclerosis

21 August 2017

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1 reference

Erik D Roberson

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James Shorter

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Eric J Huang

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Li-Huei Tsai

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21 August 2017

Haiyan Qiu

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21 August 2017

Sebum Lee

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21 August 2017

Yulei Shang

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21 August 2017

Wen-Yuan Wang

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21 August 2017

Kin Fai Au

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21 August 2017

Sherry Kamiya

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21 August 2017

Sami J Barmada

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21 August 2017

Steven Finkbeiner

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21 August 2017

Hansen Lui

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21 August 2017

Caitlin E Carlton

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21 August 2017

Amy A Tang

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21 August 2017

Michael C Oldham

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21 August 2017

Hejia Wang

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21 August 2017

Anthony J Filiano

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21 August 2017

Warren G Tourtellotte

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21 August 2017

Bin Chen

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21 August 2017

language of work or name

English

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publication date

10 February 2014

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Journal of Clinical Investigation

21 August 2017

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21 August 2017

124

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21 August 2017

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21 August 2017

981-999

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describes a project that uses

21 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3938263/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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fus/TLS orchestrates splicing of developmental regulators during gastrulation

23 August 2017

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Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogels

23 August 2017

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Dendritically targeted Bdnf mRNA is essential for energy balance and response to leptin

23 August 2017

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An epigenetic blockade of cognitive functions in the neurodegenerating brain

23 August 2017

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A yeast functional screen predicts new candidate ALS disease genes

23 August 2017

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

23 August 2017

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FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration

23 August 2017

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Distinct pathological subtypes of FTLD-FUS.

23 August 2017

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Differential expression analysis for sequence count data

23 August 2017

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Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions

23 August 2017

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Detection of splice junctions from paired-end RNA-seq data by SpliceMap.

23 August 2017

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Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology

23 August 2017

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The DNA-damage response in human biology and disease

23 August 2017

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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

23 August 2017

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Many paths to synaptic specificity.

23 August 2017

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

23 August 2017

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

23 August 2017

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23 August 2017

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mRNA localization: gene expression in the spatial dimension

23 August 2017

1 reference

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The spliceosome: design principles of a dynamic RNP machine

23 August 2017

1 reference

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Pre-mRNA processing reaches back to transcription and ahead to translation

23 August 2017

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

23 August 2017

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Deregulation of HDAC1 by p25/Cdk5 in neurotoxicity

23 August 2017

1 reference

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Evolution of the aging brain transcriptome and synaptic regulation

23 August 2017

1 reference

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Distinct role of long 3' UTR BDNF mRNA in spine morphology and synaptic plasticity in hippocampal neurons

23 August 2017

1 reference

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Neuronal regulation of alternative pre-mRNA splicing

23 August 2017

1 reference

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ALS: a disease of motor neurons and their nonneuronal neighbors

23 August 2017

1 reference

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Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling

23 August 2017

1 reference

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Onset and progression in inherited ALS determined by motor neurons and microglia

23 August 2017

1 reference

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Multiple links between transcription and splicing

23 August 2017

1 reference

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Kinesin transports RNA: isolation and characterization of an RNA-transporting granule

23 August 2017

1 reference

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Gene regulation and DNA damage in the ageing human brain

23 August 2017

1 reference

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Brain-derived neurotrophic factor is required for the maintenance of cortical dendrites

23 August 2017

1 reference

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ATF3 induction following DNA damage is regulated by distinct signaling pathways and over-expression of ATF3 protein suppresses cells growth

23 August 2017

1 reference

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Reversible cross-linking combined with immunoprecipitation to study RNA-protein interactions in vivo

23 August 2017

1 reference

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A conserved mRNA export machinery coupled to pre-mRNA splicing

23 August 2017

1 reference

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Identification of an RNA binding specificity for the potential splicing factor TLS

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Male sterility and enhanced radiation sensitivity in TLS(-/-) mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

SIRT1 collaborates with ATM and HDAC1 to maintain genomic stability in neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Assembly of synaptic laminae by axon guidance molecules

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

A qPCR-based assay to quantify oxidized guanine and other FPG-sensitive base lesions within telomeric DNA.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Dopamine D1 receptor-induced signaling through TrkB receptors in striatal neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

RNA targets of wild-type and mutant FET family proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

DNA damage regulates alternative splicing through inhibition of RNA polymerase II elongation.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Assembly of lamina-specific neuronal connections by slit bound to type IV collagen

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Blocking the mitochondrial apoptotic pathway preserves motor neuron viability and function in a mouse model of amyotrophic lateral sclerosis

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Global deprivation of brain-derived neurotrophic factor in the CNS reveals an area-specific requirement for dendritic growth

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Stringent specificity in the construction of a GABAergic presynaptic inhibitory circuit.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Biosynthesis and processing of endogenous BDNF: CNS neurons store and secrete BDNF, not pro-BDNF.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Lamina-specific axonal projections in the zebrafish tectum require the type IV collagen Dragnet

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Dissecting the human BDNF locus: bidirectional transcription, complex splicing, and multiple promoters

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Rodent BDNF genes, novel promoters, novel splice variants, and regulation by cocaine

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

A Hox regulatory network establishes motor neuron pool identity and target-muscle connectivity.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Fyn kinase modulates synaptotoxicity, but not aberrant sprouting, in human amyloid precursor protein transgenic mice.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

Degeneration of skeletal muscle, peripheral nerves, and the central nervous system in transgenic mice overexpressing wild-type prion proteins

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938263

1 September 2018

Identifiers

DOI

10.1172/JCI72723

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24509083

1 reference