Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS (Q24297462)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20740007 AND SRC:MED&resulttype=core&format=json

11 February 2020

title

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS (English)

1 reference

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amyotrophic lateral sclerosis

11 February 2020

main subject

1 reference

3

1 reference

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11 February 2020

Brian S Johnson

5

1 reference

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11 February 2020

19

John Q Trojanowski

1 reference

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11 February 2020

23

Aaron D Gitler

1 reference

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11 February 2020

22

Nancy M Bonini

1 reference

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11 February 2020

13

Leo McCluskey

1 reference

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11 February 2020

author name string

Andrew C Elden

1

1 reference

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11 February 2020

Hyung-Jun Kim

2

1 reference

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11 February 2020

Alice S Chen-Plotkin

4

1 reference

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11 February 2020

Xiaodong Fang

6

1 reference

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11 February 2020

Maria Armakola

7

1 reference

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11 February 2020

Felix Geser

8

1 reference

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11 February 2020

Robert Greene

9

1 reference

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11 February 2020

Min Min Lu

10

1 reference

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11 February 2020

Arun Padmanabhan

11

1 reference

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11 February 2020

Dana Clay-Falcone

12

1 reference

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11 February 2020

Lauren Elman

14

1 reference

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11 February 2020

Denise Juhr

15

1 reference

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11 February 2020

Peter J Gruber

16

1 reference

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11 February 2020

Udo Rüb

17

1 reference

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11 February 2020

Georg Auburger

18

1 reference

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11 February 2020

Virginia M-Y Lee

20

1 reference

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11 February 2020

Vivianna M Van Deerlin

21

1 reference

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11 February 2020

language of work or name

English

0 references

publication date

1 August 2010

1 reference

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11 February 2020

1 reference

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11 February 2020

volume

466

1 reference

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11 February 2020

issue

7310

1 reference

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11 February 2020

page(s)

1069-1075

1 reference

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Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Misfolded CuZnSOD and amyotrophic lateral sclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

P bodies promote stress granule assembly in Saccharomyces cerevisiae

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Pbp1p, a factor interacting with Saccharomyces cerevisiae poly(A)-binding protein, regulates polyadenylation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Trinucleotide Repeat Disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

TDP-43 is recruited to stress granules in conditions of oxidative insult.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Rethinking ALS: the FUS about TDP-43.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Spinocerebellar ataxia 2 (SCA2).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Therapeutic developments in the treatment of amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

27 September 2017

1 reference

Eukaryotic proteasomes cannot digest polyglutamine sequences and release them during degradation of polyglutamine-containing proteins

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Chaperone suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson's disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965417

Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20740007

12 December 2020

inferred from PubMed ID database lookup

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20740007

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

7 January 2021

Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins

1 reference

7 January 2021

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

1 reference

7 January 2021

Yeast cells provide insight into alpha-synuclein biology and pathobiology

1 reference

7 January 2021

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

1 reference

7 January 2021

Identifiers

DOI

10.1038/NATURE09320

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20740007 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 February 2020

1016044698

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20740007 AND SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

20740007

2 references