(Q47939995)

6 February 2018

title

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. (English)

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6 February 2018

amyotrophic lateral sclerosis and frontotemporal dementia

main subject

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amyotrophic lateral sclerosis

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dementia

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frontotemporal dementia

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32

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6 February 2018

Maria D Purice

Maria D Purice

5

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J Paul Taylor

J Paul Taylor

41

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Leonard Petrucelli

19

Leonard Petrucelli

1 reference

6 February 2018

Melissa E Murray

16

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Ekaterina Rogaeva

38

Ekaterina Rogaeva

1 reference

6 February 2018

31

Zbigniew K Wszolek

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6 February 2018

42

Rosa Rademakers

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6 February 2018

29

Ronald C Petersen

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6 February 2018

27

Stephan Züchner

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6 February 2018

Marsel Mesulam

22

Marsel Mesulam

1 reference

6 February 2018

Sandra Weintraub

21

Sandra Weintraub

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6 February 2018

Eileen H Bigio

39

Eileen Bigio

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6 February 2018

author name string

Ian R Mackenzie

1

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6 February 2018

Alexandra M Nicholson

2

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6 February 2018

Mohona Sarkar

3

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6 February 2018

James Messing

4

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6 February 2018

Cyril Pottier

6

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6 February 2018

Kavya Annu

7

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6 February 2018

Matt Baker

8

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6 February 2018

Ralph B Perkerson

9

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6 February 2018

Aishe Kurti

10

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6 February 2018

Billie J Matchett

11

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6 February 2018

Tanja Mittag

12

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6 February 2018

Jamshid Temirov

13

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6 February 2018

Ging-Yuek R Hsiung

14

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6 February 2018

Charles Krieger

15

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6 February 2018

Masato Kato

17

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6 February 2018

John D Fryer

18

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6 February 2018

Lorne Zinman

20

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6 February 2018

Julia Keith

23

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6 February 2018

Sasha A Zivkovic

24

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6 February 2018

Veronica Hirsch-Reinshagen

25

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6 February 2018

Raymond P Roos

26

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6 February 2018

Neill R Graff-Radford

28

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6 February 2018

Richard J Caselli

30

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6 February 2018

Carol Lippa

33

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6 February 2018

David Lacomis

34

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6 February 2018

Heather Stewart

35

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6 February 2018

Dennis W Dickson

36

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6 February 2018

Hong Joo Kim

37

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6 February 2018

Kevin B Boylan

40

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6 February 2018

language of work or name

English

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publication date

1 August 2017

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6 February 2018

published in

Neuron

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6 February 2018

volume

95

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6 February 2018

issue

4

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6 February 2018

page(s)

808-816.e9

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6 February 2018

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

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1 reference

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Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum

29 September 2018

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Decoding ALS: from genes to mechanism.

29 September 2018

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Mechanistic insights into mammalian stress granule dynamics.

29 September 2018

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29 September 2018

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C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

29 September 2018

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Internalized Tau sensitizes cells to stress by promoting formation and stability of stress granules

29 September 2018

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Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

29 September 2018

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Interaction of tau with the RNA-Binding Protein TIA1 Regulates tau Pathophysiology and Toxicity

29 September 2018

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Transport Selectivity of Nuclear Pores, Phase Separation, and Membraneless Organelles

29 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=5576574

Alterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS?

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Phase separation by low complexity domains promotes stress granule assembly and drives pathological fibrillization

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation.

29 September 2018

1 reference

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Multisystem proteinopathy: Intersecting genetics in muscle, bone, and brain degeneration

29 September 2018

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Innovative genomic collaboration using the GENESIS (GEM.app) platform

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

The disordered P granule protein LAF-1 drives phase separation into droplets with tunable viscosity and dynamics

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Quantitative measurement of intracellular protein dynamics using photobleaching or photoactivation of fluorescent proteins

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

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

29 September 2018

1 reference

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SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

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29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Active liquid-like behavior of nucleoli determines their size and shape in Xenopus laevis oocytes

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Exome sequencing reveals VCP mutations as a cause of familial ALS

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Decapping and Decay of Messenger RNA Occur in Cytoplasmic Processing Bodies

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Protein identification and analysis tools in the ExPASy server

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

Ultrastructural and biochemical analysis of the stress granule in chicken embryo fibroblasts

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

U1 and U2 small nuclear RNAs are present in nuclear speckles

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576574

10.1016/J.NEURON.2017.07.025

29 September 2018

Identifiers

DOI

1 reference

6 February 2018

0 references

1 reference

6 February 2018