Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1 (Q28285385)

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Juha Kere

object named as

Juha Kere

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Patrick F. Chinnery

10

object named as

Patrick F Chinnery

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author name string

Peter Hackman

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Sara Lehtinen

3

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Anna Vihola

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Anni Evilä

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Helena Luque

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Mark Screen

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Gabrielle Åhlberg

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Lars Edström

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Bjarne Udd

Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander)

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language of work or name

English

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publication date

April 2013

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published in

Annals of Neurology

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volume

73

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issue

4

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page(s)

500-9

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cites work

1 reference

Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms

21 January 2018

1 reference

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

21 January 2018

1 reference

RNA-binding proteins TIA-1 and TIAR link the phosphorylation of eIF-2 alpha to the assembly of mammalian stress granules

21 January 2018

1 reference

The RNA-binding protein TIA-1 is a novel mammalian splicing regulator acting through intron sequences adjacent to a 5' splice site

21 January 2018

1 reference

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

21 January 2018

1 reference

TIA-1 is a translational silencer that selectively regulates the expression of TNF-alpha

21 January 2018

1 reference

A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

21 January 2018

1 reference

Translational coregulation of 5'TOP mRNAs by TIA-1 and TIAR.

21 January 2018

1 reference

Dynamic shuttling of TIA-1 accompanies the recruitment of mRNA to mammalian stress granules

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of GMP-17, a granule membrane protein that moves to the plasma membrane of natural killer cells following target cell recognition

21 January 2018

1 reference

Structure, tissue distribution and genomic organization of the murine RRM-type RNA binding proteins TIA-1 and TIAR.

21 January 2018

1 reference

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

21 January 2018

1 reference

A few nucleotide polymorphisms are sufficient to recruit nuclear factors differentially to the intron 1 of HPV-16 intratypic variants.

21 January 2018

1 reference

Contrasting pathology of the stress granule proteins TIA-1 and G3BP in tauopathies

21 January 2018

1 reference

Poliovirus unlinks TIA1 aggregation and mRNA stress granule formation

21 January 2018

1 reference

Growth suppression by Lkb1 is mediated by a G(1) cell cycle arrest

21 January 2018

1 reference

NIH Image to ImageJ: 25 years of image analysis

21 January 2018

1 reference

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

21 January 2018

1 reference

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

21 January 2018

1 reference

Stress granules: the Tao of RNA triage

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

21 January 2018

1 reference

Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines

21 January 2018

1 reference

Pathogenic mechanisms of myotonic dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in dynamin 2 cause dominant centronuclear myopathy

21 January 2018

1 reference

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

Translation suppression promotes stress granule formation and cell survival in response to cold shock

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.23831

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

23401021

1 reference

Consolidated OpenCitations Corpus – April 2017