Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis - Wikidata - awgldk - TriplyDB

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

http://www.wikidata.org/entity/Q28237200

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Inside out: the role of nucleocytoplasmic transport in ALS and FTLD Recent advances in amyotrophic lateral sclerosis Toward precision medicine in amyotrophic lateral sclerosis Immunoprecipitation and mass spectrometry defines an extensive RBM45 protein-protein interaction network Genotype-phenotype correlations of amyotrophic lateral sclerosis Induced pluripotent stem cells for modeling neurological disorders Matrin3: connecting gene expression with the nuclear matrix Clinical and genetic basis of familial amyotrophic lateral sclerosis RNA-binding proteins in neurodegeneration: Seq and you shall receive The neurogenetics of alternative splicing TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Calcium dysregulation links ALS defective proteins and motor neuron selective vulnerability Legal but lethal: functional protein aggregation at the verge of toxicity MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation.Gene expression profiling for human iPS-derived motor neurons from sporadic ALS patients reveals a strong association between mitochondrial functions and neurodegeneration.Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions Spinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS.Obstetric risk in patients with myopathy due to MATR3 mutations.Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 Molecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia.Genetic architecture of ALS in Sardinia TDP-1, the Caenorhabditis elegans ortholog of TDP-43, limits the accumulation of double-stranded RNA.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?A network of RNA and protein interactions in Fronto Temporal Dementia.Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish A fruitful endeavor: modeling ALS in the fruit fly Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis.Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis.Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Proteins with Intrinsically Disordered Domains Are Preferentially Recruited to Polyglutamine Aggregates.Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders Rodent Models of Amyotrophic Lateral Sclerosis A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE ε4 allele carriers.RBM45 homo-oligomerization mediates association with ALS-linked proteins and stress granules

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

http://www.wikidata.org/entity/Q28237200

description

2014 nî lūn-bûn

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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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type

label

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

@nl

prefLabel

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

@ast

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

@en

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

@nl

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Nature Neuroscience

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

@en

P2093

Alan Pestronk

http://www.w3.org/2001/XMLSchema#string

Andrea Malaspina

http://www.w3.org/2001/XMLSchema#string

Ashley Boehringer

http://www.w3.org/2001/XMLSchema#string

Brett J Winborn

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Bryan J Traynor

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Conrad C Weihl

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Erik P Pioro

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Giuseppe Marangi

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Howard Feit

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J Raphael Gibbs

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P2860

Matrin 3 binds and stabilizes mRNA

Proteomic and functional analysis of Argonaute-containing mRNA-protein complexes in human cells

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

Exome sequencing reveals VCP mutations as a cause of familial ALS

State of play in amyotrophic lateral sclerosis genetics

The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

Activation of NMDA receptors induces protein kinase A-mediated phosphorylation and degradation of matrin 3. Blocking these effects prevents NMDA-induced neuronal death.

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

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535267

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10.1038/NN.3688

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5

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17

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Gabriella Restagno

Ekaterina Rogaeva

Michael Sendtner

Mario Sabatelli

Andrew Singleton

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2014-05-01T00:00:00Z

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261256201

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1010144599

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24686783

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amyotrophic lateral sclerosis

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4000579

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