Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1 - sprookjes - yvandenbroek - TriplyDB

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

http://www.wikidata.org/entity/Q28285385

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Altered ribostasis: RNA-protein granules in degenerative disorders Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease T-cell intracellular antigens in health and disease ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy Phase separation by low complexity domains promotes stress granule assembly and drives pathological fibrillization The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects.Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity.Granulostasis: Protein Quality Control of RNP Granules.Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation Staufen1 impairs stress granule formation in skeletal muscle cells from myotonic dystrophy type 1 patients.The evolutionary scope and neurological disease linkage of yeast-prion-like proteins in humans.Antibodies to the RNA Binding Protein Heterogeneous Nuclear Ribonucleoprotein A1 Colocalize to Stress Granules Resulting in Altered RNA and Protein Levels in a Model of Neurodegeneration in Multiple Sclerosis RNA-binding proteins with prion-like domains in health and disease.Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy.Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome.C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.The Physiological and Pathological Implications of the Formation of Hydrogels, with a Specific Focus on Amyloid Polypeptides.Clinical and neuropathological features of ALS/FTD with TIA1 mutations.RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.Atomic structures of TDP-43 LCD segments and insights into reversible or pathogenic aggregation Prespliceosome structure provides insights into spliceosome assembly and regulation

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P2860

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

http://www.wikidata.org/entity/Q28285385

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2013 nî lūn-bûn

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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2013 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2013年の論文

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2013年論文

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2013年論文

@zh-hant

2013年論文

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2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@ast

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@en

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@nl

type

label

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@ast

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@en

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@nl

prefLabel

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@ast

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@en

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@nl

P1433

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P1433

Annals of Neurology

P1476

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

@en

P2093

Anna Vihola

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

Anni Evilä

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

Bjarne Udd

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

Gabrielle Åhlberg

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

Helena Luque

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

Lars Edström

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

Mark Screen

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

Peter Hackman

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Sara Lehtinen

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

P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

NIH Image to ImageJ: 25 years of image analysis

The apoptosis-promoting factor TIA-1 is a regulator of alternative pre-mRNA splicing

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites.

Cell proteins TIA-1 and TIAR interact with the 3' stem-loop of the West Nile virus complementary minus-strand RNA and facilitate virus replication.

Stress granule assembly is mediated by prion-like aggregation of TIA-1

Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus

TIA-1 and TIAR activate splicing of alternative exons with weak 5' splice sites followed by a U-rich stretch on their own pre-mRNAs

Regulation of Fas alternative splicing by antagonistic effects of TIA-1 and PTB on exon definition

P304

500-9

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scholarly article

P3181

3681435

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P356

10.1002/ANA.23831

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P407

P433

4

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P478

73

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P50

Per Harald Jonson

Jaakko Sarparanta

Patrick F. Chinnery

P577

2013-04-01T00:00:00Z

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P698

23401021

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