Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. (Q42925023)

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22 February 2020

title

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS (English)

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amyotrophic lateral sclerosis

22 February 2020

main subject

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0 references

11

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22 February 2020

Jerome Mertens

2

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22 February 2020

Steven Boeynaems

3

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22 February 2020

Ludo Van Den Bosch

13

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22 February 2020

12

Fred H Gage

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22 February 2020

author name string

Ana Jovičić

1

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22 February 2020

Elke Bogaert

4

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22 February 2020

Noori Chai

5

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22 February 2020

Shizuka B Yamada

6

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22 February 2020

Joseph W Paul

7

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22 February 2020

Shuying Sun

8

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22 February 2020

Joseph R Herdy

9

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22 February 2020

Gregor Bieri

10

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22 February 2020

Aaron D Gitler

15

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22 February 2020

Wim Robberecht

14

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22 February 2020

language of work or name

English

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publication date

1 September 2015

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22 February 2020

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22 February 2020

volume

18

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22 February 2020

page(s)

1226-1229

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22 February 2020

issue

9

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https://scigraph.springernature.com/pub.10.1038/nn.4085

22 February 2020

exact match

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cites work

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

1 reference

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Neuronal medium that supports basic synaptic functions and activity of human neurons in vitro

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Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death

27 May 2018

1 reference

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Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4552077

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

27 May 2018

1 reference

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C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

27 May 2018

1 reference

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

27 May 2018

1 reference

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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

27 May 2018

1 reference

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

27 May 2018

1 reference

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

27 May 2018

1 reference

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

27 May 2018

1 reference

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4552077

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

27 May 2018

1 reference

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Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

27 May 2018

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Small molecules enable highly efficient neuronal conversion of human fibroblasts

27 May 2018

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

27 May 2018

1 reference

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

27 May 2018

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FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

27 May 2018

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

27 May 2018

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

27 May 2018

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ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

27 May 2018

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27 May 2018

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27 May 2018

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27 May 2018

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27 May 2018

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27 May 2018

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27 May 2018

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16 August 2018

Identifiers

DOI

10.1038/NN.4085

1 reference

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Dimensions Publication ID

22 February 2020

0 references

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22 February 2020

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